Global Variome shared LOVD
MUTYH (mutY homolog (E. coli))
LOVD v.3.0 Build 30b [
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Curator:
Ian Frayling
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APC (adenomatous polyposis coli)
CDH1 (cadherin 1, type 1, E-cadherin (epithelial))
EPCAM (epithelial cell adhesion molecule)
GALNT12 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalacto...)
MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli))
MLH3 (mutL homolog 3 (E. coli))
MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli))
MSH6 (mutS homolog 6 (E. coli))
MUTYH (MUTYH (mutY homolog (E. coli))
PMS2 (PMS2 postmeiotic segregation increased 2 (S. cerevisiae))
The variants shown are described using the NM_001128425.1 transcript reference sequence.
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.
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
P-domain
: region/domain protein affected
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)
conflicting
association
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
arrayMET = array for methylation analysis
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 = single 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-RNA = next-generation sequencing RNA
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
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Operator
Column type
Example
Matches
Text
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space
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Text
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!
Text
!fs
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^
Text
^p.(Arg
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$
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Ser)$
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=""
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=""
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="p.0"
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!=""
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!=""
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!=""
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combination
Text
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Date
2020
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|
Date
2020-03|2020-04
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!
Date
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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Numeric
<=23
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>
Numeric
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Numeric
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combination
Numeric
>=20 <30 !23
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Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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593 entries on 6 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
P-domain
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
?/.
13
c.1187G>A
r.(spl?)
p.(Gly396Asp)
-
Unknown
-
VUS
g.45797228C>T
g.45331556C>T
-
-
MUTYH_000075
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
Christopher Watson
+/.
13
c.1187G>A
r.(?)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
-
-
MUTYH_000075
-
PubMed: Puijenbroek 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MINAS
-
PubMed: Puijenbroek 2007
-
F
-
(Netherlands)
-
-
-
-
-
1
James Whitworth
+/.
12i
c.1187G>A
r.spl?
p.(?)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
-
-
MUTYH_000075
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MCA, MLPA, PCR, SEQ
Blood
-
FAP1
-
-
-
M
-
Russia
-
-
-
-
-
1
Grigorij Yanus
+/.
-
c.1187G>A
r.(?)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
-
-
MUTYH_000075
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MCA, MLPA-ms, PCR, SEQ
Blood
-
FAP1
-
-
familial, brother – colorectal cancer (82 years), mother – colorectal cancer (80 years)
M
-
Russia
-
-
-
-
-
3
Grigorij Yanus
+/.
-
c.1187G>A
r.(?)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)
-
MUTYH_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1187G>A
r.(?)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)
-
MUTYH_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1187G>A
r.(?)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)
-
MUTYH_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1187G>A
r.(?)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)
-
MUTYH_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1187G>A
r.(?)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)
-
MUTYH_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A (Gly382Asp)
-
MUTYH_000075
-
DUPLICATE – to be removed
-
rs36053993
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
13
c.1187G>A
r.(?)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
-
-
MUTYH_000075
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
screen data 2017-01-31
cancer, gastric, CRC
-
-
The family history includes colon, endometrial, stomach, bladder and lung cancers with a number of other tumours such as medullablastoma, pituitary tumour and testicular cancer.; ; The only other family member we have been able to test was distant relative (maternal cousin’s daughter) who was diagnosed with endometrial cancer age 44. She also carries the same MSH6 VUS. Testing on endometrial tumour did not show MSI or loss of proteins.
M
-
United Kingdom (Great Britain)
-
-
-
pedigree
-
1
InSiGHT - John-Paul Plazzer
+/.
-
c.1187G>A
r.(?)
p.(Gly396Asp)
-
Both (homozygous)
-
pathogenic
g.45797228C>T
g.45331556C>T
-
-
MUTYH_000075
-
PubMed: Cohen et al. 2016
-
-
Germline
-
-
-
-
-
DNA
?
-
-
cancer, rectal
-
PubMed: Cohen 2016
-
-
-
-
-
-
-
-
-
1
InSiGHT - John-Paul Plazzer
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Görgens 2006
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Görgens 2006
Rectal cancer age 48; no family history; 1/50 patients (0,9% of controls)
-
-
Germany
white
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Eliason 2005
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Eliason 2005
7/219 APC neg FAP patients; 2/306 MLH1 and MSH2 neg HNPCC patients
-
-
United States
-
-
-
-
-
9
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Eliason 2005
-
rs36053993
Unknown
-
1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Eliason 2005
-
-
-
United States
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Eliason 2005
-
rs36053993
Unknown
-
1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Eliason 2005
-
-
-
United States
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Eliason 2005
-
rs36053993
Unknown
-
1/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Eliason 2005
-
-
-
United States
-
-
-
-
-
2
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Eliason 2005
-
rs36053993
Unknown
-
1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Eliason 2005
-
-
-
United States
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Eliason 2005
-
rs36053993
Unknown
-
1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Eliason 2005
-
-
-
United States
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Eliason 2005
-
rs36053993
Unknown
-
2/219 APC neg FAP patients; 6/306 MLH1 and MSH2 neg HNPCC patients
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Eliason 2005
-
-
-
United States
-
-
-
-
-
8
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Dolwani 2007
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
CRC
-
PubMed: Dolwani 2007
Zero among 120 CRC cases and 100 controls
-
-
India
Indian subcontinent
-
-
-
-
-
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp; G382D
-
MUTYH_000075
Only coding region variants reported
PubMed: Croitoru 2004
-
rs36053993
Germline
-
1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics
-
-
-
DNA
DHPLC, SEQ
leukocyte
ex 1-16, screen MUTYH gene (index)
CRC
15523092_7
PubMed: Croitoru 2004
-
F
-
Canada
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp; G382D
-
MUTYH_000075
O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported
PubMed: Croitoru 2007
;
PubMed: O Shea 2008
-
rs36053993
Germline
-
1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics
-
-
-
DNA
DHPLC, SEQ
leukocyte
ex 1-16, screen MUTYH gene (index)
CRC
15523092_12
PubMed: Croitoru 2007
,
PubMed: O Shea 2008
-
F
-
Canada
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Gismondi 2004
-
rs36053993
Unknown
-
1/38 (3%) APC neg FAP patients; 1/31 (3%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls
-
-
-
DNA
PCRdig, SEQ
-
-
cancer, colon
-
PubMed: Gismondi 2004
-
-
-
Italy
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Gismondi 2004
-
rs36053993
Unknown
-
2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls
-
-
-
DNA
PCRdig, SEQ
-
-
cancer, colon
-
PubMed: Gismondi 2004
-
-
-
Italy
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Gismondi 2004
-
rs36053993
Unknown
-
2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls
-
-
-
DNA
PCRdig, SEQ
-
-
cancer, colon
-
PubMed: Gismondi 2004
-
-
-
Italy
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Aceto 2005
-
rs36053993
Unknown
-
1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls
-
-
-
DNA
DHPLC, SEQ
-
-
cancer, colon
-
PubMed: Aceto 2005
-
-
-
Italy
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Gismondi 2004
-
rs36053993
Unknown
-
1/38 (3%) APC neg FAP patients; 1/31 (3%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls
-
-
-
DNA
PCRdig, SEQ
-
-
cancer, colon
-
PubMed: Gismondi 2004
-
-
-
Italy
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Enholm 2003
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
PubMed: Enholm 2003
4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls
F
-
Finland
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Enholm 2003
-
rs36053993
Unknown
-
3/1003 (0,3%) patients with >3 polyps, 0/424 Finnish controls, Prev. rep. by Sieber
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Enholm 2003
-
M
-
Finland
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Enholm 2003
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
PubMed: Enholm 2003
4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls
F
-
Finland
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Enholm 2003
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
PubMed: Enholm 2003
4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls
F
-
Finland
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Enholm 2003
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Enholm 2003
1/1003 (0,1%) patients with >3 polyps; 0/424 Finnish controls
F
-
Finland
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Enholm 2003
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Enholm 2003
3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls
F
-
Finland
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Enholm 2003
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Enholm 2003
4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls
F
-
Finland
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Enholm 2003
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Enholm 2003
3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls
M
-
Finland
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Gismondi 2004
-
rs36053993
Unknown
-
2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls
-
-
-
DNA
PCRdig, SEQ
-
-
cancer, colon
-
PubMed: Gismondi 2004
-
-
-
Italy
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Gismondi 2004
-
rs36053993
Unknown
-
1/31 (3%) APC neg. AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; 0/52 controls
-
-
-
DNA
PCRdig, SEQ
-
-
cancer, colon
-
PubMed: Gismondi 2004
-
-
-
Italy
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Sieber 2003
;
OMIM:var0002
-
rs36053993
Unknown
-
2/152 UK patients with 3-100 polyps
-
-
-
DNA
SSCA, SEQ
-
-
?
-
PubMed: Sieber 2003
,
OMIM:var0002
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Sieber 2003
;
OMIM:var0002
-
rs36053993
Unknown
-
2/152 UK patients with 3-100 polyps
-
-
-
DNA
SSCA, SEQ
-
-
?
-
PubMed: Sieber 2003
,
OMIM:var0002
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Sieber 2003
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
SSCA, SEQ
-
-
?
-
PubMed: Sieber 2003
,
OMIM:var0002
3/107 UK patients with classic FAP; APC mutation negative
F
-
Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Sieber 2003
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
SSCA, SEQ
-
-
?
-
PubMed: Sieber 2003
,
OMIM:var0002
1/107 UK classic FAP patients APC negative
M
-
Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Sieber 2003
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
SSCA, SEQ
-
-
cancer, colon
-
PubMed: Sieber 2003
,
OMIM:var0002
3/107 UK patients with classic FAP; APC mutation negative
M
-
Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Sieber 2003
;
OMIM:var0002
-
rs36053993
Unknown
-
1/152 UK patients with 3-100 polyps
-
-
-
DNA
SSCA, SEQ
-
-
?
-
PubMed: Sieber 2003
,
OMIM:var0002
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Sieber 2003
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
SSCA, SEQ
-
-
cancer, colon
-
PubMed: Sieber 2003
,
OMIM:var0002
3/107 UK patients with classic FAP; APC mutation negative
F
-
Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Sieber 2003
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
SSCA, SEQ
-
-
?
-
PubMed: Sieber 2003
,
OMIM:var0002
1/107 UK classic FAP patients APC negative
M
-
Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Sieber 2003
;
OMIM:var0002
-
rs36053993
Unknown
-
1/152 UK patients with 3-100 polyps
-
-
-
DNA
SSCA, SEQ
-
-
?
-
PubMed: Sieber 2003
,
OMIM:var0002
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Sieber 2003
;
OMIM:var0002
-
rs36053993
Unknown
-
2/152 UK patients with 3-100 polyps
-
-
-
DNA
SSCA, SEQ
-
-
?
-
PubMed: Sieber 2003
,
OMIM:var0002
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Sieber 2003
;
OMIM:var0002
-
rs36053993
Unknown
-
2/152 UK patients with 3-100 polyps
-
-
-
DNA
SSCA, SEQ
-
-
?
-
PubMed: Sieber 2003
,
OMIM:var0002
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Bouguen 2007
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Bouguen 2007
APC negative patients
M
-
France
white
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Bouguen 2007
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Bouguen 2007
APC negative patients
M
-
France
white
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Bouguen 2007
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Bouguen 2007
APC negative patients
M
-
France
white
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Bouguen 2007
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Bouguen 2007
APC negative patients
F
-
France
white
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Bouguen 2007
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Bouguen 2007
APC negative patients
M
-
France
white
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Bouguen 2007
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Bouguen 2007
APC negative patients
M
-
France
white
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Bouguen 2007
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
cancer, colon
-
PubMed: Bouguen 2007
APC negative patients
F
-
France
white
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Kambara 2004
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
CRC
-
PubMed: Kambara 2004
2 Sporadic CRC patients
-
-
Australia
-
-
-
-
-
2
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Kambara 2004
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
cancer, colon
-
PubMed: Kambara 2004
-
M
-
Australia
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Kambara 2004
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
cancer, colon
-
PubMed: Kambara 2004
-
M
-
Australia
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Vandrovcová 2004
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
cancer, colon
-
PubMed: Vandrovcová 2004
1 biallelic among 21 APC neg patients (probands)
M
-
Czech Republic
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #2
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Lipton 2003
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
PubMed: Lipton 2003
-
-
-
(Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain))
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Nielsen 2009a
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
?
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2009a
,
PubMed: Vogt 2009
Among 170 APC negative Dutch FAP patients
F
-
(Netherlands)
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Middeldorp 2008
;
PubMed: Nielsen 2009a
;
PubMed: Nielsen 2009b
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
cancer, colon
-
PubMed: Nielsen 2005
,
PubMed: Middeldorp 2008
,
PubMed: Nielsen 2009a
,
PubMed: Nielsen 2009b
,
PubMed: Vogt 2009
Among 170 APC negative Dutch FAP patients
F
-
(Netherlands)
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Nielsen 2009a
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
CRC
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2009a
,
PubMed: Vogt 2009
Among 170 APC negative Dutch FAP patients
F
-
(Netherlands)
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Middeldorp 2008
;
PubMed: Nielsen 2009a
;
PubMed: Nielsen 2009b
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
cancer, colon
-
PubMed: Nielsen 2005
,
PubMed: Middeldorp 2008
,
PubMed: Nielsen 2009a
,
PubMed: Nielsen 2009b
,
PubMed: Vogt 2009
Among 170 APC negative Dutch FAP patients
F
-
(Netherlands)
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Nielsen 2009a
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
?
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2009a
,
PubMed: Vogt 2009
Among 170 APC negative Dutch FAP patients
M
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Middeldorp 2008
;
PubMed: Nielsen 2009a
;
PubMed: Nielsen 2009b
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
cancer, colon
-
PubMed: Nielsen 2005
,
PubMed: Middeldorp 2008
,
PubMed: Nielsen 2009a
,
PubMed: Nielsen 2009b
,
PubMed: Vogt 2009
Among 170 APC negative Dutch FAP patients
M
-
(Netherlands)
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Nielsen 2009a
;
PubMed: Nielsen 2009b
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
cancer, colon
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2009a
,
PubMed: Nielsen 2009b
,
PubMed: Vogt 2009
Among 170 APC negative Dutch FAP patients
F
-
(Netherlands)
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Nielsen 2007
;
PubMed: Nielsen 2009a
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
?
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2007
,
PubMed: Nielsen 2009a
,
PubMed: Vogt 2009
Among 170 APC negative Dutch FAP patients
F
-
(Netherlands)
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Nielsen 2009a
;
PubMed: Nielsen 2009b
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
CRC
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2009a
,
PubMed: Nielsen 2009b
,
PubMed: Vogt 2009
Among 170 APC negative Dutch FAP patients
M
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #2
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Middeldorp 2008
;
PubMed: Nielsen 2009a
;
PubMed: Nielsen 2009b
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
cancer, colon
-
PubMed: Nielsen 2005
,
PubMed: Middeldorp 2008
,
PubMed: Nielsen 2009a
,
PubMed: Nielsen 2009b
,
PubMed: Vogt 2009
Among 170 APC negative Dutch FAP patients
M
-
(Netherlands)
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys
PubMed: Nielsen 2005
;
PubMed: Nielsen 2009a
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
?
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2009a
,
PubMed: Vogt 2009
Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys; Among 170 APC negative Dutch FAP patients
M
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #2
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys
PubMed: Nielsen 2005
;
PubMed: Nielsen 2009a
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
?
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2009a
,
PubMed: Vogt 2009
Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys; Among 170 APC negative Dutch FAP patients
M
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Nielsen 2009a
;
PubMed: Nielsen 2009b
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
cancer, colon
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2009a
,
PubMed: Nielsen 2009b
,
PubMed: Vogt 2009
170 APC negative Dutch FAP patients
F
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #2
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Nielsen 2009a
;
PubMed: Nielsen 2009b
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
cancer, colon
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2009a
,
PubMed: Nielsen 2009b
,
PubMed: Vogt 2009
170 APC negative Dutch FAP patients
F
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #2
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Nielsen 2007
;
PubMed: Nielsen 2009a
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
?
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2007
,
PubMed: Nielsen 2009a
Among 170 APC negative Dutch FAP patients
F
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
;
PubMed: Nielsen 2007
;
PubMed: Nielsen 2009a
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
?
-
PubMed: Nielsen 2005
,
PubMed: Nielsen 2007
,
PubMed: Nielsen 2009a
Among 170 APC negative Dutch FAP patients
F
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A (Gly382Asp)
-
MUTYH_000075
-
PubMed: Aretz 2006
;
PubMed: Vogt 2009
-
rs36053993
Germline
-
31/658
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
CRC
-
PubMed: Aretz 2006
,
PubMed: Vogt 2009
-
F
-
(Germany)
-
-
-
-
-
1
Stefan Aretz
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
-
CRC
-
PubMed: Nielsen 2005
Among 170 APC negative Dutch FAP patients
M
-
-
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Nielsen 2005
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
-
?
-
PubMed: Nielsen 2005
Among 170 APC negative Dutch FAP patients
M
-
-
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Shinmura 2001
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ, SSCA
-
-
cancer
PMID11295288_5
PubMed: Shinmura 2001
Among 43 US individuals with various types of carcinoma
-
-
United States
-
-
-
-
-
2
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Cheadle and Sampson, 2003
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
PMID12915454_1
PubMed: Cheadle and Sampson, 2003
-
-
-
-
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Fleischmann 2004
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
PMID14991577_10
PubMed: Fleischmann 2004
-
-
-
-
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #1
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A (Gly382asp)
-
MUTYH_000075
-
PubMed: Wang 2004
-
rs36053993
Unknown
-
-
-
-
-
DNA
MCA, SEQ
leukocyte
genotyping, test known variant (group)
?
PMID15236166_33
PubMed: Wang 2004
among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic
M
-
United States
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #2
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A (Gly382Asp)
-
MUTYH_000075
-
PubMed: Vogt 2009
,
PubMed: Nielsen 2009b
,
PubMed: Nielsen 2009b
-
rs36053993
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
screen MUTYH gene (index)
CRC
-
PubMed: Vogt 2009
,
PubMed: Nielsen 2009b
,
PubMed: Nielsen 2009b
-
M
-
Netherlands
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #2
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A (Gly382Asp)
-
MUTYH_000075
transcript detected with RT-PCR; Only c.1187G>A allele detectable; Compound heterozygous c.[1187-2A>G]+[1187G>A]
PubMed: Farrington 2005
-
rs36053993
Germline
-
51/4487 (1.1%)
-
-
-
DNA, RNA
RT-PCR, SEQ
leukocyte
allelic discrimination, screen MUTYH gene (index)
CRC
15931596_patient_c1187_c1187-2
PubMed: Farrington 2005
1 (0.04%) compound heterozygote c.[1187-2A>G]+[1187G>A] among 2,239 CRC patients; 0 compound heterozygotes among 1,845 controls; population-based association study
-
-
Scotland
-
-
-
-
-
1
Carli Tops
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #2
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
no aberrant splicing could be detected
PubMed: Al-Tassan 2002
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
?
PMID11818965_II:1
PubMed: Al-Tassan 2002
,
OMIM:var0002
Family N, Sib II:1
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #2
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Al-Tassan 2002
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig
-
-
?
PMID11818965_II:2
PubMed: Al-Tassan 2002
,
OMIM:var0002
Family N, Sib II:2
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Parent #2
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Al-Tassan 2002
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig
-
-
?
PMID11818965_II:3
PubMed: Al-Tassan 2002
,
OMIM:var0002
Family N, Sib II:3
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Al-Tassan 2002
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig
-
-
?
PMID11818965_II:6
PubMed: Al-Tassan 2002
,
OMIM:var0002
Family N, Sib II:6
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Al-Tassan 2002
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig
-
-
?
PMID11818965_II:7
PubMed: Al-Tassan 2002
,
OMIM:var0002
Family N, Sib II:7
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Al-Tassan 2002
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig
-
-
?
PMID11818965_III:1
PubMed: Al-Tassan 2002
,
OMIM:var0002
Family N, Child III:1 of II:1
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Al-Tassan 2002
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig
-
-
?
PMID11818965_III:2
PubMed: Al-Tassan 2002
,
OMIM:var0002
Family N, Child III:2 of II:2
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Al-Tassan 2002
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig
-
-
?
PMID11818965_III:3
PubMed: Al-Tassan 2002
,
OMIM:var0002
Family N, Child III:3 of II:2
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Al-Tassan 2002
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
PCRdig
-
-
?
PMID11818965_III:5
PubMed: Al-Tassan 2002
,
OMIM:var0002
Family N, Child III:5 of II:2
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Al-Tassan 2002
;
OMIM:var0002
-
rs36053993
Unknown
-
-
-
-
-
DNA
DHPLC
-
-
?
PMID11818965_control1
PubMed: Al-Tassan 2002
,
OMIM:var0002
1/100 controls
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Akyerli 2003
-
rs36053993
Unknown
-
0/185 patients with childhood leukemia (AML n=45) (ALL n=140); 0/124 controls without malignancy
-
-
-
DNA
PCRdig, SEQ
-
-
?
PMID12920580_2
PubMed: Akyerli 2003
-
-
-
Turkey
-
-
-
-
-
-
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Akyerli 2003
-
rs36053993
Unknown
-
0/124 controls without malignancy, 0/185 patients with childhood leukemia (AML n=45) (ALL n=140)
-
-
-
DNA
PCRdig, SEQ
-
-
?
PMID12920580_3
PubMed: Akyerli 2003
-
-
-
Turkey
-
-
-
-
-
-
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Olschwang 2007
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
PubMed: Olschwang 2007
Among 406 patients with >5 polyps and/or CRC in France
-
-
-
-
-
-
-
-
1
Astrid Out
+/.
13
c.1187G>A
r.(1187g>a)
p.(Gly396Asp)
-
Unknown
-
pathogenic
g.45797228C>T
g.45331556C>T
1145G>A Gly382Asp
-
MUTYH_000075
-
PubMed: Olschwang 2007
-
rs36053993
Unknown
-
-
-
-
-
DNA
SEQ
-
-
CRC
-
PubMed: Olschwang 2007
Among 406 patients with >5 polyps and/or CRC in France
-
-
-
-
-
-
-
-
1
Astrid Out
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