Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA): description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
Haplotype: haplotype on which variant was found
RNA change: description of variant at RNA level (following HGVS recommendations).
- r.123c>u
- r.? = unknown
- r.(?) = RNA not analysed but probably transcribed copy of DNA variant
- r.spl? = RNA not analysed but variant probably affects splicing
- r.(spl?) = RNA not analysed but variant may affect splicing
- r.0? = change expected to abolish transcription
Protein: description of variant at protein level (following HGVS recommendations).
- p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
- p.Arg345Pro = change derived from RNA analysis
- p.? = unknown effect
- p.0? = probably no protein produced
Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method: The method used for the clinical classification of this variant.
All options:
- ACMG
- ACGS
- EAHAD-CFDB
- ENIGMA
- IARC
- InSiGHT
- kConFab
- other
Clinical classification: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
- pathogenic
- pathogenic (dominant)
- pathogenic (recessive)
- pathogenic (!)
- pathogenic (maternal)
- pathogenic (paternal)
- likely pathogenic
- likely pathogenic (dominant)
- likely pathogenic (recessive)
- likely pathogenic (!)
- likely pathogenic (maternal)
- likely pathogenic (paternal)
- VUS
- VUS (!)
- likely benign
- likely benign (dominant)
- likely benign (recessive)
- likely benign (!)
- likely benign (maternal)
- likely benign (paternal)
- benign
- benign (dominant)
- benign (recessive)
- benign (!)
- benign (maternal)
- benign (paternal)
- association
- unclassified
- NA
DNA change (genomic) (hg19): HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38): HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN: description of the variant according to ISCN nomenclature
DB-ID: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID: ID of variant in ClinVar database
dbSNP ID: the dbSNP ID
Origin: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
- Germline
- De novo
- Germline/De novo (untested)
- Somatic
- Uniparental disomy
- Uniparental disomy, maternal allele
- Uniparental disomy, paternal allele
- CLASSIFICATION record
- SUMMARY record
- In vitro (cloned)
- In silico
- animal model
- Artefact
- DUPLICATE record
- Unknown
- Not applicable
Segregation: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
- ? = unknown
- yes = segregates with phenotype
- no = does not segregate with phenotype
- - = not applicable
Frequency: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Methylation: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
- DNA
- RNA = RNA (cDNA)
- protein
- ? = unknown
Technique: technique(s) used to identify the sequence variant.
All options:
- ? = unknown
- ARMS = amplification refractory mutation system
- arrayCGH = array for Comparative Genomic Hybridisation
- arraySEQ = array for resequencing
- arraySNP = array for SNP typing
- arrayCNV = array for Copy Number Variation (SNP and CNV probes)
- ASO = allele-specific oligo hybridisation
- BESS = Base Excision Sequence Scanning
- CMC = Chemical Mismatch Cleavage
- COBRA = Combined Bisulfite Restriction Analysis
- CSCE = Conformation Sensitive Capillary Electrophoresis
- CSGE = Conformation Sensitive Gel Electrophoresis
- ddF = dideoxy Fingerprinting
- DGGE = Denaturing-Gradient Gel-Electrophoresis
- DHPLC = Denaturing High-Performance Liquid Chromatography
- DOVAM = Detection Of Virtually All Mutations (SSCA variant)
- DSCA = Double-Strand DNA Conformation Analysis
- DSDI = Detection Small Deletions and Insertions
- EMC = Enzymatic Mismatch Cleavage
- expr = expression analysis
- FISH = Fluorescent In-Situ Hybridisation
- FISHf = fiberFISH
- HD = HeteroDuplex analysis
- HPLC = High-Performance Liquid Chromatography
- IEF = IsoElectric Focussing
- IHC = Immuno-Histo-Chemistry
- Invader = Invader assay
- MAPH = Multiplex Amplifiable Probe Hybridisation
- MAQ = Multiplex Amplicon Quantification
- MCA = Melting Curve Analysis, high-resolution (HRMA)
- microscope = microscopic analysis (karyotype)
- microsat = microsatellite genotyping
- minigene = expression minigene construct
- MIP = Molecular Inversion Probe amplification
- MIPsm = singele molecule Molecular Inversion Probe amplification
- MLPA = Multiplex Ligation-dependent Probe Amplification
- MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
- MS = mass spectrometry
- Northern = Northern blotting
- NUC = nuclease digestion (RNAseT1, S1)
- OM = optical mapping
- PAGE = Poly-Acrylamide Gel-Electrophoresis
- PCR = Polymerase Chain Reaction
- PCRdd = PCR, digital droplet
- PCRdig = PCR + restriction enzyme digestion
- PCRh = PCR, haloplex
- PCRlr = PCR, long-range
- PCRm = PCR, multiplex
- PCRms = PCR, methylation sensitive
- PCRq = PCR, quantitative (qPCR)
- PCRrp = PCR, repeat-primed (RP-PCR)
- PCRsqd = PCR, semi-quantitative duplex
- PE = primer extension (APEX, SNaPshot)
- PEms = primer extension, methylation-sensitive single-nucleotide
- PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
- PTT = Protein Truncation Test
- RFLP = Restriction Fragment Length Polymorphisms
- RT-PCR = Reverse Transcription and PCR
- RT-PCRq = Reverse Transcription and PCR, quantitative
- SBE = Single Base Extension
- SEQ = SEQuencing (Sanger)
- SEQb = bisulfite SEQuencing
- SEQp = pyroSequencing
- SEQms = sequencing, methylation specific
- SEQ-ON = next-generation sequencing - Oxford Nanopore
- SEQ-NG = next-generation sequencing
- SEQ-NG-H = next-generation sequencing - Helicos
- SEQ-NG-I = next-generation sequencing - Illumina/Solexa
- SEQ-NG-IT = next-generation sequencing - Ion Torrent
- SEQ-NG-R = next-generation sequencing - Roche/454
- SEQ-NG-S = next-generation sequencing - SOLiD
- SEQ-PB = next-generation sequencing - Pacific Biosciences
- SNPlex = SNPlex
- Southern = Southern blotting
- SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
- SSCAf = fluorescent SSCA (SSCP)
- STR = Short Tandem Repeat
- TaqMan = TaqMan assay
- Western = Western blotting
- - = not applicable
Tissue: tissue type used for analysis
Remarks: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks: remarks about the individual
Gender: gender individual
All options:
- ? = unknown
- - = not applicable
- F = female
- M = male
- rF = raised as female
- rM = raised as male
Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
- no = non-consanguineous parents
- yes = consanguineous parents
- likely = consanguinity likely
- ? = unknown
- - = not applicable
Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
- ? (unknown)
- - (not applicable)
- Afghanistan
- (Afghanistan)
- Albania
- (Albania)
- Algeria
- (Algeria)
- American Samoa
- (American Samoa)
- Andorra
- (Andorra)
- Angola
- (Angola)
- Anguilla
- (Anguilla)
- Antarctica
- (Antarctica)
- Antigua and Barbuda
- (Antigua and Barbuda)
- Argentina
- (Argentina)
- Armenia
- (Armenia)
- Aruba
- (Aruba)
- Australia
- (Australia)
- Austria
- (Austria)
- Azerbaijan
- (Azerbaijan)
- Bahamas
- (Bahamas)
- Bahrain
- (Bahrain)
- Bangladesh
- (Bangladesh)
- Barbados
- (Barbados)
- Belarus
- (Belarus)
- Belgium
- (Belgium)
- Belize
- (Belize)
- Benin
- (Benin)
- Bermuda
- (Bermuda)
- Bhutan
- (Bhutan)
- Bolivia
- (Bolivia)
- Bosnia and Herzegovina
- (Bosnia and Herzegovina)
- Botswana
- (Botswana)
- Bouvet Island
- (Bouvet Island)
- Brazil
- (Brazil)
- British Indian Ocean Territory
- (British Indian Ocean Territory)
- Brunei Darussalam
- (Brunei Darussalam)
- Bulgaria
- (Bulgaria)
- Burkina Faso
- (Burkina Faso)
- Burundi
- (Burundi)
- Cambodia
- (Cambodia)
- Cameroon
- (Cameroon)
- Canada
- (Canada)
- Cape Verde
- (Cape Verde)
- Cayman Islands
- (Cayman Islands)
- Central African Republic
- (Central African Republic)
- Central Europe
- Chad
- (Chad)
- Chile
- (Chile)
- China
- (China)
- Christmas Island
- (Christmas Island)
- Cocos (Keeling Islands)
- (Cocos (Keeling Islands))
- Colombia
- (Colombia)
- Comoros
- (Comoros)
- Congo
- (Congo)
- Cook Islands
- (Cook Islands)
- Costa Rica
- (Costa Rica)
- Cote D'Ivoire (Ivory Coast)
- (Cote D'Ivoire (Ivory Coast))
- Croatia (Hrvatska)
- (Croatia (Hrvatska))
- Cuba
- (Cuba)
- Cyprus
- (Cyprus)
- Czech Republic
- (Czech Republic)
- Denmark
- (Denmark)
- Djibouti
- (Djibouti)
- Dominica
- (Dominica)
- Dominican Republic
- (Dominican Republic)
- East Timor
- (East Timor)
- Ecuador
- (Ecuador)
- Egypt
- (Egypt)
- El Salvador
- (El Salvador)
- England
- (England)
- Equatorial Guinea
- (Equatorial Guinea)
- Eritrea
- (Eritrea)
- Estonia
- (Estonia)
- Ethiopia
- (Ethiopia)
- Falkland Islands (Malvinas)
- (Falkland Islands (Malvinas))
- Faroe Islands
- (Faroe Islands)
- Fiji
- (Fiji)
- Finland
- (Finland)
- France
- (France)
- Gabon
- (Gabon)
- Gambia
- (Gambia)
- Georgia
- (Georgia)
- Germany
- (Germany)
- Ghana
- (Ghana)
- Gibraltar
- (Gibraltar)
- Greece
- (Greece)
- Greenland
- (Greenland)
- Grenada
- (Grenada)
- Guadeloupe
- (Guadeloupe)
- Guam
- (Guam)
- Guatemala
- (Guatemala)
- Guiana, French
- (Guiana, French)
- Guinea
- (Guinea)
- Guinea-Bissau
- (Guinea-Bissau)
- Guyana
- (Guyana)
- Haiti
- (Haiti)
- Heard and McDonald Islands
- (Heard and McDonald Islands)
- Honduras
- (Honduras)
- Hong Kong
- (Hong Kong)
- Hungary
- (Hungary)
- Iceland
- (Iceland)
- India
- (India)
- Indonesia
- (Indonesia)
- Iran
- (Iran)
- Iraq
- (Iraq)
- Ireland
- (Ireland)
- Israel
- (Israel)
- Italy
- (Italy)
- Jamaica
- (Jamaica)
- Japan
- (Japan)
- Jordan
- (Jordan)
- Kazakhstan
- (Kazakhstan)
- Kenya
- (Kenya)
- Kiribati
- (Kiribati)
- Korea
- (Korea)
- Korea, North (People's Republic)
- (Korea, North (People's Republic))
- Korea, South (Republic)
- (Korea, South (Republic))
- Kosovo
- (Kosovo)
- Kuwait
- (Kuwait)
- Kyrgyzstan (Kyrgyz Republic)
- (Kyrgyzstan (Kyrgyz Republic))
- Laos
- (Laos)
- Latvia
- (Latvia)
- Lebanon
- (Lebanon)
- Lesotho
- (Lesotho)
- Liberia
- (Liberia)
- Libya
- (Libya)
- Liechtenstein
- (Liechtenstein)
- Lithuania
- (Lithuania)
- Luxembourg
- (Luxembourg)
- Macau
- (Macau)
- Macedonia
- (Macedonia)
- Madagascar
- (Madagascar)
- Malawi
- (Malawi)
- Malaysia
- (Malaysia)
- Maldives
- (Maldives)
- Mali
- (Mali)
- Mallorca
- (Mallorca)
- Malta
- (Malta)
- Marshall Islands
- (Marshall Islands)
- Martinique
- (Martinique)
- Mauritania
- (Mauritania)
- Mauritius
- (Mauritius)
- Mayotte
- (Mayotte)
- Mexico
- (Mexico)
- Micronesia
- (Micronesia)
- Moldova
- (Moldova)
- Monaco
- (Monaco)
- Mongolia
- (Mongolia)
- Montserrat
- (Montserrat)
- Morocco
- (Morocco)
- Mozambique
- (Mozambique)
- Myanmar
- (Myanmar)
- Namibia
- (Namibia)
- Nauru
- (Nauru)
- Nepal
- (Nepal)
- Netherlands
- (Netherlands)
- Netherlands Antilles
- (Netherlands Antilles)
- Neutral Zone (Saudia Arabia/Iraq)
- (Neutral Zone (Saudia Arabia/Iraq))
- New Caledonia
- (New Caledonia)
- New Zealand
- (New Zealand)
- Nicaragua
- (Nicaragua)
- Niger
- (Niger)
- Nigeria
- (Nigeria)
- Niue
- (Niue)
- Norfolk Island
- (Norfolk Island)
- Northern Ireland
- (Northern Ireland)
- Northern Mariana Islands
- (Northern Mariana Islands)
- Norway
- (Norway)
- Oman
- (Oman)
- Pakistan
- (Pakistan)
- Palau
- (Palau)
- Palestine
- (Palestine)
- Panama
- (Panama)
- Papua New Guinea
- (Papua New Guinea)
- Paraguay
- (Paraguay)
- Peru
- (Peru)
- Philippines
- (Philippines)
- Pitcairn
- (Pitcairn)
- Poland
- (Poland)
- Polynesia, French
- (Polynesia, French)
- Portugal
- (Portugal)
- Puerto Rico
- (Puerto Rico)
- Qatar
- (Qatar)
- Reunion
- (Reunion)
- Romania
- (Romania)
- Russia
- (Russia)
- Russian Federation
- (Russian Federation)
- Rwanda
- (Rwanda)
- S. Georgia and S. Sandwich Isls.
- (S. Georgia and S. Sandwich Isls.)
- Saint Kitts and Nevis
- (Saint Kitts and Nevis)
- Saint Lucia
- (Saint Lucia)
- Saint Vincent and The Grenadines
- (Saint Vincent and The Grenadines)
- Samoa
- (Samoa)
- San Marino
- (San Marino)
- Sao Tome and Principe
- (Sao Tome and Principe)
- Saudi Arabia
- (Saudi Arabia)
- Scotland
- (Scotland)
- Senegal
- (Senegal)
- Serbia
- (Serbia)
- Seychelles
- (Seychelles)
- Sierra Leone
- (Sierra Leone)
- Singapore
- (Singapore)
- Slovakia (Slovak Republic)
- (Slovakia (Slovak Republic))
- Slovenia
- (Slovenia)
- Solomon Islands
- (Solomon Islands)
- Somalia
- (Somalia)
- South Africa
- (South Africa)
- Southern Territories, French
- (Southern Territories, French)
- Soviet Union (former)
- (Soviet Union (former))
- Spain
- (Spain)
- Sri Lanka
- (Sri Lanka)
- St. Helena, Ascension and Tristan da
- Cunha
- (St. Helena, Ascension and Tristan da
- Cunha)
- St. Pierre and Miquelon
- (St. Pierre and Miquelon)
- Sudan
- (Sudan)
- Sudan, South
- (Sudan, South)
- Suriname
- (Suriname)
- Svalbard and Jan Mayen Islands
- (Svalbard and Jan Mayen Islands)
- Swaziland
- (Swaziland)
- Sweden
- (Sweden)
- Switzerland
- (Switzerland)
- Syria
- (Syria)
- Taiwan
- (Taiwan)
- Tajikistan
- (Tajikistan)
- Tanzania
- (Tanzania)
- Thailand
- (Thailand)
- Togo
- (Togo)
- Tokelau
- (Tokelau)
- Tonga
- (Tonga)
- Trinidad and Tobago
- (Trinidad and Tobago)
- Tunisia
- (Tunisia)
- Turkey
- (Turkey)
- Turkmenistan
- (Turkmenistan)
- Turks and Caicos Islands
- (Turks and Caicos Islands)
- Tuvalu
- (Tuvalu)
- Uganda
- (Uganda)
- Ukraine
- (Ukraine)
- United Arab Emirates
- (United Arab Emirates)
- United Kingdom (Great Britain)
- (United Kingdom (Great Britain))
- United States
- (United States)
- Uruguay
- (Uruguay)
- US Minor Outlying Islands
- (US Minor Outlying Islands)
- Uzbekistan
- (Uzbekistan)
- Vanuatu
- (Vanuatu)
- Vatican City State (Holy See)
- (Vatican City State (Holy See))
- Venezuela
- (Venezuela)
- Viet Nam
- (Viet Nam)
- Virgin Islands (British)
- (Virgin Islands (British))
- Virgin Islands (US)
- (Virgin Islands (US))
- Wales
- (Wales)
- Wallis and Futuna Islands
- (Wallis and Futuna Islands)
- Western Sahara
- (Western Sahara)
- Yemen
- (Yemen)
- Yugoslavia
- (Yugoslavia)
- Zaire
- (Zaire)
- Zambia
- (Zambia)
- Zimbabwe
- (Zimbabwe)
Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death: age at which the individual deceased (when applicable):
- 35y = 35 years
- >43y = still alive at 43y
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment: treatment of patient

 Effect
|

 Exon
|

 DNA change (cDNA)
|

 Haplotype
|

 RNA change
|

 Protein
|

 Allele
|

 Classification method
|

 Clinical classification
|

 DNA change (genomic) (hg19)
|

 DNA change (hg38)
|

 Published as
|

 ISCN
|

 DB-ID
|
 Variant remarks
|

 Reference
|

 ClinVar ID
|

 dbSNP ID
|

 Origin
|

 Segregation
|

 Frequency
|

 Re-site
|

 VIP
|

 Methylation
|

 Template
|

 Technique
|

 Tissue
|
 Remarks
|

 Disease
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Panel size
|

 Owner
|
-/- |
_1 |
c.-979C>G |
- |
r.(=) |
p.(=) |
Unknown |
- |
benign |
g.171059150C>G |
g.171090009C>G |
-2650C>G |
- |
FMO3_000095 |
no effect on transcription in vitro |
PubMed: Koukouritaki et al. 2005 |
- |
rs1736560 |
Germline |
? |
HapMap 0.332 (Eur), 0.558 (Jpn), 0.124 (Afr) |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/- |
_1 |
c.-918C>T |
- |
r.(=) |
p.(=) |
Unknown |
- |
benign |
g.171059211C>T |
g.171090070C>T |
-2589C>T |
- |
FMO3_000096 |
no effect on transcription in vitro |
PubMed: Koukouritaki et al. 2005 |
- |
- |
Germline |
? |
0.040 (white American), 0.007 (African American), 0.007 (Hispanic American) |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/- |
_1 |
c.-872T>A |
- |
r.(=) |
p.(=) |
Unknown |
- |
benign |
g.171059257T>A |
g.171090116T>A |
-2543T>A |
- |
FMO3_000097 |
no effect on transcription in vitro |
PubMed: Koukouritaki et al. 2005 |
- |
rs12404218 |
Germline |
? |
HapMap 0.066 (Eur), 0.256 (Jpn), 0.080 (Afr) |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/? |
_1 |
c.-506G>C |
- |
r.(=) |
p.(=) |
Unknown |
- |
VUS |
g.171059623G>C |
g.171090482G>C |
-2177G>C |
- |
FMO3_000098 |
increases transcription in vitro by up to 8-fold, effect in vivo unknown |
PubMed: Koukouritaki et al. 2005 |
- |
rs3754491 |
Germline |
? |
HapMap 0.100 (Eur), 0.244 (Jpn), 0.075 (Afr) |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/? |
_1 |
c.-435G>A |
- |
r.(=) |
p.(=) |
Unknown |
- |
VUS |
g.171059694G>A |
g.171090553G>A |
-2106G>A |
- |
FMO3_000099 |
decreases transcription in vitro, effect in vivo unknown |
PubMed: Koukouritaki et al. 2005 |
- |
rs16864006 |
Germline |
? |
HapMap 0.000 (Eur), 0.000 (Asian), 0.031 (Afr) |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/? |
_1 |
c.-428A>G |
- |
r.(=) |
p.(=) |
Unknown |
- |
VUS |
g.171059701A>G |
g.171090560A>G |
-2099A>G |
- |
FMO3_000100 |
effect unknown |
PubMed: Koukouritaki et al. 2005 |
- |
- |
Germline |
? |
0/1204 control chromosomes |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
_1_2i |
c.-421_133-993del |
- |
r.? |
p.? |
Both (homozygous) |
- |
pathogenic (recessive) |
g.171059708_171071933del |
g.171090567_171102792del |
g.-2092 to 10145del |
- |
FMO3_000091 |
12226-bp deletion including exons 1 and 2 and the translational start codon. One homozygous proband of Greek ancestry. |
PubMed: Forrest et al. 2006 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Forrest 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ian Phillips |
+/+ |
_1_2i |
c.-421_133-993del |
- |
r.(?) |
p.? |
Both (homozygous) |
- |
pathogenic (recessive) |
g.171059708_171071933del |
g.171090567_171102792del |
- |
- |
FMO3_000091 |
Expected to affect metabolism of drug substrates of FMO3 |
- |
- |
- |
SUMMARY record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/? |
_1 |
c.-290T>C |
- |
r.(=) |
p.(=) |
Unknown |
- |
VUS |
g.171059839T>C |
g.171090698T>C |
-1961T>C |
- |
FMO3_000101 |
no effect on transcription in vitro |
PubMed: Koukouritaki et al. 2005 |
- |
rs16864007 |
Germline |
? |
HapMap 0.000 (Eur), 0.000 (Asian), 0.031 (Afr) |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
4_9 |
c.[341A>G;1322T>C] |
- |
- |
p.[Asn114Ser;Ile441Thr] |
Parent #1 |
- |
NA |
g.[171076835A>G;171086305T>C] |
- |
- |
- |
FMO3_000000 |
cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.22) and benzydamine (0.16) |
PubMed: Shimizu 2012 |
- |
- |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/- |
2 |
c.72G>T |
- |
r.(?) |
p.(Glu24Asp) |
Unknown |
- |
benign |
g.171061871G>T |
g.171092730G>T |
g.72G>T |
- |
FMO3_000034 |
- |
PubMed: Koukouritaki et al. 2005, PubMed: Koukouritaki et al. 2007 |
- |
- |
Germline |
no |
2/400 chromosomes (non-Latino white), 0/404 (Hispanic American), 0/402 (African American) |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/? |
2 |
c.72G>T |
- |
r.(?) |
p.Glu24Asp |
Unknown |
- |
NA |
g.171061871G>T |
g.171092730G>T |
- |
- |
FMO3_000034 |
small increase in kcat/Km for TMA and methimazole; no effect for sulindac or ethylenethiourea |
PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007 |
- |
- |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
2 |
c.94G>A |
- |
r.(?) |
p.(Glu32Lys) |
Unknown |
- |
pathogenic (recessive) |
g.171061893G>A |
g.171092752G>A |
g.94G>A |
- |
FMO3_000003 |
rare variant. Het in 1 individual |
PubMed: Zhang et al. 2003 |
- |
rs72549320 |
Germline |
yes |
0/98 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Zhang 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
2 |
c.94G>A |
- |
r.(?) |
p.Glu32Lys |
Unknown |
- |
NA |
g.171061893G>A |
g.171092752G>A |
- |
- |
FMO3_000003 |
Variant expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S-oxygenation. |
PubMed: Zhang 2003 |
- |
rs72549320 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
2 |
c.94G>A |
- |
r.(?) |
p.(Glu32Lys) |
Unknown |
- |
NA |
g.171061893G>A |
g.171092752G>A |
- |
- |
FMO3_000003 |
abolishes enzyme activity for TMA and for methimazole and 5-DPT |
PubMed: Zhang 2003 |
- |
- |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
2 |
c.110T>C |
- |
r.(?) |
p.(Ile37Thr) |
Unknown |
- |
pathogenic (recessive) |
g.171061909T>C |
g.171092768T>C |
g.110T>C |
- |
FMO3_000029 |
het in 1 Italian TMAU proband |
PubMed: Teresa et al. 2006 |
- |
- |
Germline |
yes |
0/200 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
? |
? |
PubMed: Teresa 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+?/. |
7 |
c.112G>T |
- |
r.(?) |
p.(Gly38Trp) |
Maternal (confirmed) |
- |
likely pathogenic (recessive) |
g.171061911G>T |
g.171092770G>T |
Gly38Trp |
- |
FMO3_000104 |
- |
PubMed: Ferreira 2013 |
- |
rs199975586 |
Germline |
? |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat16 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+?/. |
7 |
c.112G>T |
- |
r.(?) |
p.(Gly38Trp) |
Unknown |
- |
likely pathogenic (recessive) |
g.171061911G>T |
g.171092770G>T |
Gly38Trp |
- |
FMO3_000104 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat18 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/. |
- |
c.116G>A |
- |
r.(?) |
p.(Gly39Asp) |
Unknown |
- |
likely pathogenic |
g.171061915G>A |
g.171092774G>A |
- |
- |
FMO3_000116 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/- |
3 |
c.136C>A |
- |
r.(?) |
p.(His46Asn) |
Unknown |
- |
benign |
g.171072929C>A |
g.171103788C>A |
- |
- |
FMO3_000046 |
Rare variant. 1/140 chromosomes in Koreans |
PubMed: Park et al. 1999 |
- |
- |
Germline |
no |
1/140 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Park 1999 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
3 |
c.151A>G |
- |
r.(?) |
p.(Arg51Gly) |
Unknown |
- |
pathogenic (recessive) |
g.171072944A>G |
g.171103803A>G |
g.11145A>G |
- |
FMO3_000030 |
Rare variant. 1 homozygous proband. |
PubMed: Mazon Ramos et al. 2003 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Mazon Ramos 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
3 |
c.154G>A |
- |
r.(?) |
p.(Ala52Thr) |
Unknown |
- |
pathogenic (recessive) |
g.171072947G>A |
g.171103806G>A |
g.11148G>T |
- |
FMO3_000018 |
Het in 1 of 8 patients |
PubMed: Akerman et al. 1999 |
- |
rs72549321 |
Germline |
yes |
0/60 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Akerman 1999 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
Unknown |
- |
pathogenic (recessive) |
g.171072965G>A |
g.171103824G>A |
g.11166G>A |
- |
FMO3_000007 |
1 Thai; impaired TMA N-oxygenation capacity |
PubMed: Kubota 2002 |
- |
rs144935285 |
Germline |
yes |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Kubota 2002 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.Val58Ile |
Unknown |
- |
NA |
g.171072965G>A |
g.171103824G>A |
- |
- |
FMO3_000007 |
Vmax/Km for TMA 79% decreased |
PubMed: Kubota 2002 |
- |
rs72549332 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.Val58Ile |
Unknown |
- |
NA |
g.171072965G>A |
g.171103824G>A |
- |
- |
FMO3_000007 |
cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.72) and benzydamine (0.46) |
PubMed: Shimizu 2012 |
- |
rs72549332 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
Unknown |
- |
pathogenic (recessive) |
g.171072965G>A |
g.171103824G>A |
- |
- |
FMO3_000007 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation |
- |
- |
- |
SUMMARY record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
Parent #1 |
- |
pathogenic (recessive) |
g.171072965G>A |
g.171103824G>A |
g.16882G>A |
- |
FMO3_000007 |
- |
PubMed: Shimizu 2012 |
- |
rs144935285 |
Germline |
yes |
6/1280 chromosomes |
- |
0 |
- |
DNA |
SEQ |
buccal cells |
- |
TMAU |
22819296-Pat3 |
PubMed: Shimizu 2012 |
- |
F |
- |
Japan |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
Parent #1 |
- |
pathogenic (recessive) |
g.171072965G>A |
g.171103824G>A |
g.16882G>A |
- |
FMO3_000007 |
- |
PubMed: Shimizu 2012 |
- |
rs144935285 |
Germline |
yes |
6/1280 chromosomes |
- |
0 |
- |
DNA |
SEQ |
buccal cells |
- |
TMAU |
22819296-Pat4 |
PubMed: Shimizu 2012 |
- |
M |
- |
Japan |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
?/. |
- |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
Parent #1 |
- |
VUS |
g.171072965G>A |
g.171103824G>A |
- |
- |
FMO3_000007 |
16 heterozygous; Clinindb (India) |
PubMed: Narang 2020, Journal: Narang 2020 |
- |
rs144935285 |
Germline |
- |
16/2795 individuals |
- |
0 |
- |
DNA |
arraySNP |
- |
Infinium Global Screening Array v1.0 |
? |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
0 |
- |
- |
16 |
Mohammed Faruq |
?/. |
- |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
Both (homozygous) |
- |
VUS |
g.171072965G>A |
g.171103824G>A |
- |
- |
FMO3_000007 |
1 homozygous; Clinindb (India) |
PubMed: Narang 2020, Journal: Narang 2020 |
- |
rs144935285 |
Germline |
- |
1/2795 individuals |
- |
0 |
- |
DNA |
arraySNP |
- |
Infinium Global Screening Array v1.0 |
? |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
0 |
- |
- |
1 |
Mohammed Faruq |
+/+ |
3 |
c.182A>G |
- |
r.(?) |
p.(Asn61Ser) |
Unknown |
- |
pathogenic (recessive) |
g.171072975A>G |
g.171103834A>G |
g.11177A>G |
- |
FMO3_000002 |
Rare variant. 2 patients compound hets with P153L |
PubMed: Dolphin et al. 2000 |
- |
rs72549322 |
Germline |
yes |
0/118 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Dolphin 2000 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
3 |
c.182A>G |
- |
r.(?) |
p.Asn61Ser |
Unknown |
- |
NA |
g.171072975A>G |
g.171103834A>G |
- |
- |
FMO3_000002 |
abolishes N-oxygenation of TMA, but no effect on S-oxygenation of methimazole |
PubMed: Dolphin 2000 |
- |
rs72549331 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.182A>G |
- |
r.(?) |
p.(Asn61Ser) |
Unknown |
- |
pathogenic (recessive) |
g.171072975A>G |
g.171103834A>G |
- |
- |
FMO3_000002 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation, but not those that undergo S-oxygenation |
- |
- |
rs72549331 |
SUMMARY record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.183C>A |
- |
r.(?) |
p.(Asn61Lys) |
Unknown |
- |
pathogenic (recessive) |
g.171072976C>A |
g.171103835C>A |
g.11177C>A |
- |
FMO3_000035 |
Low-frequency polymorphic variant (0.052 in white, 0.035 in African-Americans) that severely reduces activity. Expected to cause TMAU, but not reported in patients. |
PubMed: Koukouritaki et al. 2005, PubMed: Koukouritaki et al. 2007 |
- |
- |
Germline |
? |
see Remarks |
- |
0 |
- |
DNA |
SEQ |
- |
- |
? |
? |
PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
3 |
c.183C>A |
- |
r.(?) |
p.Asn61Lys |
Unknown |
- |
NA |
g.171072976C>A |
g.171103835C>A |
- |
- |
FMO3_000035 |
bbolishes activity for TMA and ethylenethiourea, severely reduces activity for methimazole and sulindac |
PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007 |
- |
- |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.183C>A |
- |
r.(?) |
p.(Asn61Lys) |
Unknown |
- |
pathogenic (recessive) |
g.171072976C>A |
g.171103835C>A |
- |
- |
FMO3_000035 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S- oxygenation |
- |
- |
- |
SUMMARY record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.192del |
- |
r.(?) |
p.(Glu65Argfs*2) |
Unknown |
- |
pathogenic (recessive) |
g.171072985del |
g.171103844del |
A191 deletion; g.11185delA |
- |
FMO3_000036 |
Also known as M66X and K64Rfs. Truncated protein.
Rare variant, 1 individual, compound het with P153L |
PubMed: Zhang et al. 2003 |
- |
- |
Germline |
yes |
0/174 Chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Zhang 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
3 |
c.192del |
- |
r.(?) |
p.(Glu65Argfs*2) |
Unknown |
- |
pathogenic (recessive) |
g.171072985del |
g.171103844del |
- |
- |
FMO3_000036 |
Expected to affect metabolism of drug substrates of FMO3 |
- |
- |
- |
SUMMARY record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.198G>T |
- |
r.(?) |
p.(Met66Ile) |
Unknown |
- |
pathogenic (recessive) |
g.171072991G>T |
g.171103850G>T |
g.11192G>T |
- |
FMO3_000012 |
Rare variant. 2 probands of Irish origin. |
PubMed: Akerman et al. 1999, PubMed: Treacy et al. 1998 |
- |
rs72549323 |
Germline |
yes |
0/360 |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Akerman 1999, PubMed: Treacy 1998 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
3 |
c.198G>T |
- |
r.(?) |
p.Met66Ile |
Unknown |
- |
NA |
g.171072991G>T |
g.171103850G>T |
- |
- |
FMO3_000012 |
abolishes activity for TMA |
PubMed: Treacy 1998,PubMed: Akerman 1999 |
- |
rs72549323 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.198G>T |
- |
r.(?) |
p.(Met66Ile) |
Unknown |
- |
pathogenic (recessive) |
g.171072991G>T |
g.171103850G>T |
- |
- |
FMO3_000012 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation |
- |
- |
rs72549323 |
SUMMARY record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.209C>T |
- |
r.(?) |
p.(Pro70Leu) |
Parent #1 |
- |
pathogenic (recessive) |
g.171073002C>T |
g.171103861C>T |
g.16919C>T |
- |
FMO3_000014 |
- |
PubMed: Shimizu 2012 |
- |
- |
Germline |
yes |
2/1280 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
22819296-Pat5 |
PubMed: Shimizu 2012 |
- |
M |
- |
Japan |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
3 |
c.209C>T |
- |
r.(?) |
p.Pro70Leu |
Unknown |
- |
NA |
g.171073002C>T |
g.171103861C>T |
- |
- |
FMO3_000014 |
cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.55) and benzydamine (0.46) |
PubMed: Shimizu 2012 |
- |
- |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.209C>T |
- |
r.(?) |
p.(Pro70Leu) |
Unknown |
- |
pathogenic (recessive) |
g.171073002C>T |
g.171103861C>T |
- |
- |
FMO3_000014 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation |
- |
- |
- |
SUMMARY record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.209C>T |
- |
r.(?) |
p.(Pro70Leu) |
Parent #2 |
- |
pathogenic (recessive) |
g.171073002C>T |
g.171103861C>T |
g.16919C>T |
- |
FMO3_000014 |
- |
PubMed: Shimizu 2012 |
- |
- |
Germline |
yes |
2/1280 chromosomes |
- |
0 |
- |
DNA |
SEQ |
buccal cells |
- |
TMAU |
22819296-Pat3 |
PubMed: Shimizu 2012 |
- |
F |
- |
Japan |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+/. |
3 |
c.209C>T |
- |
r.(?) |
p.(Pro70Leu) |
Parent #2 |
- |
pathogenic (recessive) |
g.171073002C>T |
g.171103861C>T |
- |
- |
FMO3_000014 |
- |
PubMed: Fujieda 2003 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Fujieda 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
3 |
c.245T>C |
- |
r.(?) |
p.(Met82Thr) |
Unknown |
- |
pathogenic (recessive) |
g.171073038T>C |
g.171103897T>C |
g.11239T>C |
- |
FMO3_000019 |
Rare variant. 1 homozygous proband. Filipino mother, father not known |
PubMed: Murphy et al. 2000 |
- |
rs72549324 |
Germline |
yes |
0/50 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Murphy 2000 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
3 |
c.245T>C |
- |
r.(?) |
p.Met82Thr |
Unknown |
- |
NA |
g.171073038T>C |
g.171103897T>C |
- |
- |
FMO3_000019 |
abolishes activity for TMA and methimazole |
PubMed: Murphy 2000 |
- |
- |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.245T>C |
- |
r.(?) |
p.(Met82Thr) |
Unknown |
- |
pathogenic (recessive) |
g.171073038T>C |
g.171103897T>C |
- |
- |
FMO3_000019 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S- oxygenation |
- |
- |
- |
SUMMARY record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/- |
4 |
c.341A>G |
- |
r.(?) |
p.(Asn114Ser) |
Unknown |
- |
benign |
g.171076835A>G |
g.171107694A>G |
g.15036A>G |
- |
FMO3_000005 |
not causative of TMAU, no effect in vitro |
PubMed: Shimizu et al. 2007 |
- |
rs186763441 |
Germline |
no |
0/100 chromosomes |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/- |
4 |
c.341A>G |
- |
r.(?) |
p.(Asn114Ser) |
Maternal (confirmed) |
- |
benign |
g.171076835A>G |
g.171107694A>G |
- |
- |
FMO3_000005 |
- |
PubMed: Shimizu 2012 |
- |
rs186763441 |
Germline |
no |
1/1280 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
22819296-Pat1 |
PubMed: Shimizu 2012 |
2-generation family, 1 affected, unaffected heterozygous carrier parents |
M |
- |
Japan |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
-?/. |
- |
c.341A>G |
- |
r.(?) |
p.(Asn114Ser) |
Unknown |
- |
likely benign |
g.171076835A>G |
g.171107694A>G |
- |
- |
FMO3_000005 |
classification based on frequency in 305 unrelated individuals |
PubMed: Le 2019 |
- |
- |
Germline |
- |
frequency 0.014 |
- |
0 |
- |
DNA |
SEQ, SEQ-NG |
- |
105 WGS/200 WES |
Healthy/Control |
- |
PubMed: Le 2019 |
analysis 305 unrelated individuals |
- |
- |
Viet Nam |
- |
- |
0 |
- |
- |
1 |
Global Variome, with Curator vacancy |
+?/+? |
4 |
c.394G>C |
- |
r.(?) |
p.(Asp132His) |
Unknown |
- |
likely pathogenic (recessive) |
g.171076888G>C |
g.171107747G>C |
g.15089G>C |
- |
FMO3_000033 |
Population-specific polymorphic variant: African Americans (7/260 chromosomes), European Americans (0/240 chromosomes). dbSNP: 0/88 Asian chromosomes. Possibly causative of moderate TMAU; homozygotes excreted ~70% of TMA as TMA N-oxide |
PubMed: Furnes et al. 2003, PubMed: Lattard et al. 2003 |
- |
rs12072582 |
Germline |
? |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Furnes 2003, PubMed: Lattard 2003, PubMed: Cashman 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+?/+? |
4 |
c.394G>C |
- |
r.(?) |
p.Asp132His |
Unknown |
- |
NA |
g.171076888G>C |
g.171107747G>C |
- |
- |
FMO3_000033 |
substrate-dependent reduction in activity: 60% for TMA, 30% for methimazole and 6% for 5-DPT |
PubMed: Cashman 2003 |
- |
rs12072582 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/+? |
4 |
c.394G>C |
- |
r.(?) |
p.(Asp132His) |
Unknown |
- |
likely pathogenic (recessive) |
g.171076888G>C |
g.171107747G>C |
- |
- |
FMO3_000033 |
expected to have a moderate substrate-dependent effect on metabolism of drug substrates of FMO3 |
- |
- |
rs12072582 |
SUMMARY record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/? |
4 |
c.428T>A |
- |
r.(?) |
p.(Val143Glu) |
Unknown |
- |
VUS |
g.171076922T>A |
g.171107781T>A |
g.15123T>A |
- |
FMO3_000020 |
Polymorphic variant (0.07 frequency). One proband, in cis with the common polymorphic variant p.Glu158Lys and compound het with p.Pro153Leu. |
PubMed: Basarab et al. 1999 |
- |
- |
Germline |
yes |
6/88 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
? |
? |
PubMed: Basarab 1999 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
-/- |
4 |
c.441C>T |
- |
r.(=) |
p.(=) |
Unknown |
- |
benign |
g.171076935C>T |
g.171107794C>T |
15019A>C (S147S) |
- |
FMO3_000092 |
- |
PubMed: Koukouritaki et al. 2005 |
- |
rs1800822 |
Germline |
no |
HapMap 0.066 (Eur), 0.227 (Jpn), 0.031 (Afr) |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/. |
- |
c.441C>T |
- |
r.(?) |
p.(Ser147=) |
Unknown |
- |
benign |
g.171076935C>T |
g.171107794C>T |
- |
- |
FMO3_000092 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/- |
4 |
c.441C>T |
- |
r.(?) |
p.(Ser147=) |
Unknown |
- |
likely pathogenic |
g.171076935C>T |
g.171107794C>T |
Ser147Ser |
- |
FMO3_000092 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat2 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.441C>T |
- |
r.(?) |
p.(Ser147=) |
Both (homozygous) |
- |
likely pathogenic |
g.171076935C>T |
g.171107794C>T |
Ser147Ser |
- |
FMO3_000092 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat8 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.441C>T |
- |
r.(?) |
p.(Ser147=) |
Both (homozygous) |
- |
likely pathogenic |
g.171076935C>T |
g.171107794C>T |
Ser147Ser |
- |
FMO3_000092 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat9 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
-/. |
- |
c.441C>T |
- |
r.(=) |
p.(=) |
Parent #1 |
- |
benign |
g.171076935C>T |
g.171107794C>T |
20852C>T |
- |
FMO3_000092 |
- |
PubMed: Fujieda 2003 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Fujieda 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
4 |
c.442G>T |
- |
r.(?) |
p.(Gly148*) |
Unknown |
- |
pathogenic (recessive) |
g.171076936G>T |
g.171107795G>T |
g.15137G>T |
- |
FMO3_000006 |
Rare variant. 1/140 Korean chromosomes. Truncated protein. Expected to cause TMAU; het had low FMO3 activity as judged by low theobromine/caffeine ratio (0.64) |
PubMed: Park et al. 1999 |
- |
rs72549325 |
Germline |
? |
1/140 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Park 1999 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
-/- |
4 |
c.445C>T |
- |
r.(?) |
p.(His149Tyr) |
Unknown |
- |
benign |
g.171076939C>T |
g.171107798C>T |
- |
- |
FMO3_000055 |
Rare variant. 1 in 140 Korean chromosomes. |
PubMed: Park et al. 1999 |
- |
- |
Germline |
no |
1/140 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Park 1999 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
4 |
c.458C>T |
- |
r.(?) |
p.(Pro153Leu) |
Unknown |
- |
pathogenic (recessive) |
g.171076952C>T |
g.171107811C>T |
g.15153C>T |
- |
FMO3_000001 |
Rare variant. 14 probands of European origin |
PubMed: Dolphin et al. 1997, PubMed: Treacy et al. 1998 |
- |
rs72549326 |
Germline |
yes |
0/60 chromosomes |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Dolphin 1997, PubMed: Treacy 1998 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
4 |
c.458C>T |
- |
r.(?) |
p.Pro153Leu |
Unknown |
- |
NA |
g.171076952C>T |
g.171107811C>T |
- |
- |
FMO3_000001 |
variant expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S-oxygenation; impaired benzydamine N-oxygenation in compound het with E305X or with S173R |
PubMed: Mayatepek 2004 |
- |
rs72549326 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
4 |
c.458C>T |
- |
r.(?) |
p.Pro153Leu |
Unknown |
- |
NA |
g.171076952C>T |
g.171107811C>T |
- |
- |
FMO3_000001 |
abolishes activity for TMA and methimazole |
PubMed: Treacy 1998, PubMed: Dolphin 1997 |
- |
rs72549326 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
4 |
c.458C>T |
- |
r.(?) |
p.(Pro153Leu) |
Unknown |
- |
pathogenic (recessive) |
g.171076952C>T |
g.171107811C>T |
Pro153Leu |
- |
FMO3_000001 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat12 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+/+ |
4 |
c.458C>T |
- |
r.(?) |
p.(Pro153Leu) |
Unknown |
- |
pathogenic (recessive) |
g.171076952C>T |
g.171107811C>T |
Pro153Leu |
- |
FMO3_000001 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat17 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
-/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
benign |
g.171076966G>A |
g.171107825G>A |
g.15167G>A |
- |
FMO3_000008 |
Common polymorphic variant: 0.48 (African),0.42 (European), 0.21 (Asian) (HapMAP). Effect greater when present in cis with p.Glu308Gly. Associated with increased risk of sudden infant death syndrome (SIDS) (Poetsch et al 2010); homozygotes for E158K-E308G in cis can exhibit transient childhood TMAU |
PubMed: Brunelle et al. 1997, PubMed: Dolphin et al. 1997, PubMed: Treacy et al. 1998, PubMed: Zschocke et al. 1999, PubMed: Park et al. 1999, PubMed: Furnes et al. 2003, PubMed: Poetsch et al. 2010 |
- |
rs2266782 |
Germline |
no |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Brunelle 1997, PubMed: Dolphin 1997, PubMed: Treacy 1998, PubMed: Zschocke 1999, PubMed: Park 1999, PubMed: Furnes 2003, PubMed: Poetsch 2010 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+?/? |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Both (homozygous) |
- |
likely pathogenic (recessive) |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat3 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Elizabeth A. Shephard |
-/- |
4 |
c.472G>A |
- |
r.(?) |
p.Glu158Lys |
Unknown |
- |
NA |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
caffeine and clozapine: no effect on metabolism |
PubMed: Sachse 1999 |
- |
rs2266782 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/- |
4 |
c.472G>A |
- |
r.(?) |
p.Glu158Lys |
Unknown |
- |
NA |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
Sulindac: patients homozygous for E158K exhibit enhanced polyp regression in response to treatment |
PubMed: Sachse 1999, PubMed: Hisamuddin 2004, PubMed: Hisamuddin 2005, PubMed: Soderberg 2012 |
- |
rs2266782 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/- |
4 |
c.472G>A |
- |
r.(?) |
p.Glu158Lys |
Unknown |
- |
NA |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
Olanzapine: homozygotes for E158K and E308G have lower N-oxide serum concentrations |
PubMed: Soderberg 2012 |
- |
rs2266782 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/? |
4 |
c.472G>A |
- |
r.(?) |
p.Glu158Lys |
Unknown |
- |
NA |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
little/moderate substrate-dependent effect, results vary among labs, effect greater when present in cis with p.Glu308Gly: kcat/Km for methimazole reduced 16% (p.Glu158Lys) and 57% (p.Glu158Lys-Glu308Gly) (Allerston 2009). E158K shows 5-fold increased tamoxifen N-oxygenation (Krueger 2006). |
PubMed: Dolphin 1997, PubMed: Treacy 1998, PubMed: Zschocke 1999 |
- |
rs72549321 |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Maternal (confirmed) |
- |
VUS |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
- |
PubMed: Shimizu 2012 |
- |
rs2266782 |
Germline |
yes |
- |
- |
0 |
- |
DNA |
SEQ |
buccal cells |
- |
TMAU |
22819296-Pat2 |
PubMed: Shimizu 2012 |
2-generation family, 1 affected, unaffected heterozygous carrier parents |
F |
- |
Japan |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
-/. |
- |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
benign |
g.171076966G>A |
g.171107825G>A |
FMO3(NM_001002294.3):c.472G>A (p.E158K) |
- |
FMO3_000008 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/. |
- |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
benign |
g.171076966G>A |
g.171107825G>A |
FMO3(NM_001002294.3):c.472G>A (p.E158K) |
- |
FMO3_000008 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/. |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Both (homozygous) |
- |
likely pathogenic (recessive) |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat16 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+?/. |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Both (homozygous) |
- |
likely pathogenic (recessive) |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat22 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Elizabeth A. Shephard |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat2 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat4 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/. |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
likely pathogenic (recessive) |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat6 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/. |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
likely pathogenic (recessive) |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat7 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat10 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Both (homozygous) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat11 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat12 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat13 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat15 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat17 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Both (homozygous) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat18 |
PubMed: Ferreira 2013 |
- |
F |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Both (homozygous) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat19 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat20 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Unknown |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat21 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Both (homozygous) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat23 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
Both (homozygous) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
23791655-Pat24 |
PubMed: Ferreira 2013 |
- |
M |
- |
Portugal |
- |
- |
0 |
- |
- |
1 |
Johan den Dunnen |
-/. |
4i |
c.484+65_484+67del |
- |
r.(=) |
p.(=) |
Parent #1 |
- |
benign |
g.171077043_171077045del |
g.171107902_171107904del |
20960_20962delCTT |
- |
FMO3_000110 |
- |
PubMed: Fujieda 2003 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Fujieda 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
-/. |
4i |
c.485-22G>A |
- |
r.(=) |
p.(=) |
Parent #1 |
- |
benign |
g.171077198G>A |
g.171108057G>A |
21115G>A |
- |
FMO3_000111 |
- |
PubMed: Fujieda 2003 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Fujieda 2003 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Ornicha Prapapan |
+/+ |
5 |
c.517A>C |
- |
r.(?) |
p.(Ser173Arg) |
Unknown |
- |
pathogenic (recessive) |
g.171077252A>C |
g.171108111A>C |
S173R |
- |
FMO3_000102 |
One proband, compound het with P153L. DNA change was not reported so could be c.517A>C or c.519C>G. |
PubMed: Mayatepek et al. 2004 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
DNA |
SEQ |
- |
- |
TMAU |
? |
PubMed: Mayatepek 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
1 |
Elizabeth A. Shephard |
+/+ |
5 |
c.517A>C |
- |
r.(?) |
p.Ser173Arg |
Unknown |
- |
NA |
g.171077252A>C |
g.171108111A>C |
- |
- |
FMO3_000102 |
impaired benzydamine N-oxygenation in compound het with P153L |
PubMed: Mayatepek 2004 |
- |
- |
In vitro (cloned) |
- |
- |
- |
0 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |