Global Variome shared LOVD
FKTN (fukutin)
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Curator:
Johan den Dunnen
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This database is one of the gene variant databases from the
"Leiden Muscular Dystrophy pages" (LMDp)
.
The variants shown are described using the NM_001079802.1 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
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-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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Column type
Example
Matches
Text
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space
Text
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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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=""
Text
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="p.0"
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!=""
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!=""
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!=""
Text
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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
!2020-03
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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
>23
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Numeric
>=23
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combination
Numeric
>=20 <30 !23
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Some more advanced examples:
Example
Matches
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Asian !Caucasian
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"South Asian"
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Effect
Exon
DNA change (cDNA)
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
-?/.
-
c.-88-6T>C
r.(=)
p.(=)
Unknown
-
likely benign
g.108337220T>C
g.105574939T>C
FKTN(NM_001079802.1):c.-88-6T>C (p.(=))
-
FKTN_000071
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/?
3
c.-45G>T
r.(?)
p.(=)
Unknown
-
benign
g.108337269G>T
g.105574988G>T
-
-
FKTN_000057
-
from website {DBsub-Emory}
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
3
c.-7C>G
r.(?)
p.(=)
Parent #1
-
VUS
g.108337307C>G
g.105575026C>G
-
-
FKTN_000094
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
3
c.21C>T
r.(?)
p.(=)
Parent #1
-
VUS
g.108337334C>T
g.105575053C>T
-
-
FKTN_000095
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-?/.
-
c.21C>T
r.(?)
p.(Asn7=)
Unknown
-
likely benign
g.108337334C>T
g.105575053C>T
FKTN(NM_001351496.1):c.21C>T (p.N7=)
-
FKTN_000095
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.22G>A
r.(?)
p.(Val8Met)
Both (homozygous)
-
VUS
g.108337335G>A
g.105575054G>A
-
-
FKTN_000093
-
PubMed: Papuc 2019
-
rs368981218
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
EIEE
70757
-
-
F
no
-
-
-
-
-
-
1
Anaïs Begemann
?/.
-
c.22G>T
r.(?)
p.(Val8Leu)
Unknown
-
VUS
g.108337335G>T
g.105575054G>T
FKTN(NM_001351496.2):c.22G>T (p.V8L), FKTN(NM_006731.2):c.22G>T (p.V8L)
-
FKTN_000072
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.22G>T
r.(?)
p.(Val8Leu)
Unknown
-
VUS
g.108337335G>T
g.105575054G>T
FKTN(NM_001351496.2):c.22G>T (p.V8L), FKTN(NM_006731.2):c.22G>T (p.V8L)
-
FKTN_000072
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
3
c.41C>T
r.(?)
p.(Thr14Met)
Unknown
-
VUS
g.108337354C>T
g.105575073C>T
-
-
FKTN_000058
-
from website {DBsub-Emory}
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
3
c.41C>T
r.(?)
p.(Thr14Met)
Parent #1
-
VUS
g.108337354C>T
g.105575073C>T
-
-
FKTN_000058
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
-
c.41C>T
r.(?)
p.(Thr14Met)
Unknown
-
VUS
g.108337354C>T
g.105575073C>T
FKTN(NM_001351496.2):c.41C>T (p.T14M)
-
FKTN_000058
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.42del
r.(?)
p.(Leu15*)
Parent #1
-
pathogenic
g.108337355del
g.105575074del
42delG
-
FKTN_000092
-
PubMed: Mercuri 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
19299310-Pat42
PubMed: Mercuri 2009
-
-
-
Italy
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.42G>A
r.(?)
p.(Thr14=)
Unknown
-
benign
g.108337355G>A
g.105575074G>A
FKTN(NM_001079802.1):c.42G>A (p.(Thr14=), p.T14=), FKTN(NM_006731.2):c.42G>A (p.T14=)
-
FKTN_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.42G>A
r.(?)
p.(Thr14=)
Unknown
-
benign
g.108337355G>A
g.105575074G>A
FKTN(NM_001079802.1):c.42G>A (p.(Thr14=), p.T14=), FKTN(NM_006731.2):c.42G>A (p.T14=)
-
FKTN_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.42G>A
r.(?)
p.(Thr14=)
Unknown
-
likely benign
g.108337355G>A
g.105575074G>A
FKTN(NM_001079802.1):c.42G>A (p.(Thr14=), p.T14=), FKTN(NM_006731.2):c.42G>A (p.T14=)
-
FKTN_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/?
3
c.42G>A
r.(?)
p.(=)
Unknown
-
benign
g.108337355G>A
g.105575074G>A
-
-
FKTN_000059
-
from website {DBsub-Emory}
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+?/.
3
c.49A>C
r.(?)
p.(Ser17Arg)
Maternal (confirmed)
ACMG
likely pathogenic (recessive)
g.108337362A>C
g.105575081A>C
-
-
FKTN_000152
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
MDDGA
Case 18
-
-
F
no
(Korea, South (Republic))
Korea
-
-
-
-
1
Young Jun Ko
+?/.
-
c.49A>C
r.(?)
p.(Ser17Arg)
Maternal (confirmed)
ACMG
likely pathogenic
g.108337362A>C
g.105575081A>C
-
-
FKTN_000152
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
MDDGC
Case 21
-
-
M
no
(Korea, South (Republic))
Korea
-
-
-
-
1
Young Jun Ko
+/.
-
c.49A>C
r.(?)
p.(Ser17Arg)
Parent #2
-
pathogenic (recessive)
g.108337362A>C
g.105575081A>C
-
-
FKTN_000152
-
PubMed: Song 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MDDG
Pat130
PubMed: Song 2021
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+?/.
3
c.49A>C
r.(?)
p.(Ser17Arg)
Unknown
ACMG
likely pathogenic
g.108337362A>C
-
-
-
FKTN_000152
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
MDDGA
Case 19
-
-
F
no
(Korea, South (Republic))
Korea
-
-
-
-
1
Young Jun Ko
+/.
-
c.62T>A
r.(?)
p.(Leu21Gln)
Parent #1
-
pathogenic (recessive)
g.108337375T>A
g.105575094T>A
-
-
FKTN_000155
-
PubMed: Song 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MDDG
Pat127
PubMed: Song 2021
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.63G>C
r.(?)
p.(Leu21=)
Unknown
-
likely benign
g.108337376G>C
g.105575095G>C
FKTN(NM_001079802.1):c.63G>C (p.L21=)
-
FKTN_000122
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
3i
c.105+36_105+39del
r.(?)
p.(=)
Unknown
-
VUS
g.108337454_108337457del
g.105575173_105575176del
105+36_105+39delTCTT
-
FKTN_000060
-
from website {DBsub-Emory}
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-/?
3i
c.106-40A>G
r.(?)
p.(=)
Unknown
-
benign
g.108358839A>G
g.105596558A>G
-
-
FKTN_000061
-
from website {DBsub-Emory}
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-/.
-
c.106-10G>A
r.(=)
p.(=)
Unknown
-
benign
g.108358869G>A
g.105596588G>A
FKTN(NM_001079802.1):c.106-10G>A (, p.(=))
-
FKTN_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.106-10G>A
r.(=)
p.(=)
Unknown
-
benign
g.108358869G>A
g.105596588G>A
FKTN(NM_001079802.1):c.106-10G>A (, p.(=))
-
FKTN_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.106-10G>A
r.(=)
p.(=)
Unknown
-
likely benign
g.108358869G>A
g.105596588G>A
FKTN(NM_001079802.1):c.106-10G>A (, p.(=))
-
FKTN_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/?
3i
c.106-10G>A
r.(?)
p.(=)
Unknown
-
benign
g.108358869G>A
g.105596588G>A
-
-
FKTN_000062
-
from website {DBsub-Emory}
-
-
Unknown
-
Germline
-
-
-
DNA
SEQ
-
-
?
?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
4
c.139C>T
r.(?)
p.(Arg47*)
Parent #2
-
pathogenic
g.108358912C>T
g.105596631C>T
-
-
FKTN_000002
-
PubMed: Kobayashi 2001
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
MDC
?
PubMed: Kobayashi 2001
3 affecteds
-
-
Japan
-
-
-
-
-
3
Johan den Dunnen
+/.
4
c.139C>T
r.(?)
p.(Arg47*)
Parent #2
-
pathogenic
g.108358912C>T
g.105596631C>T
-
-
FKTN_000002
-
PubMed: Matsumoto 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
?
PubMed: Matsumoto 2005
3 affecteds
-
-
Japan
-
-
-
-
-
3
Johan den Dunnen
+/.
4
c.139C>T
r.(?)
p.(Arg47*)
Maternal (confirmed)
-
pathogenic
g.108358912C>T
g.105596631C>T
250C>T
-
FKTN_000002
-
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
,
OMIM:var0002
-
-
Germline
-
-
AluI+
-
-
DNA
SEQ, SSCA
-
-
MDC
?
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
-
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.139C>T
r.(?)
p.(Arg47*)
Parent #2
-
pathogenic
g.108358912C>T
g.105596631C>T
-
-
FKTN_000002
-
PubMed: Vuillaumier-Barrot 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
19179078.4
PubMed: Vuillaumier-Barrot 2009
-
M
-
France
white
>7y
-
-
-
1
Rosário dos Santos
+/.
4
c.139C>T
r.(?)
p.(Arg47*)
Paternal (confirmed)
-
pathogenic
g.108358912C>T
g.105596631C>T
250C>T
-
FKTN_000002
-
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
,
OMIM:var0002
-
-
Germline
-
-
AluI+
-
-
DNA
SEQ, SSCA
-
-
MDC
?
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.139C>T
r.(?)
p.(Arg47*)
Paternal (confirmed)
-
pathogenic
g.108358912C>T
g.105596631C>T
250C>T
-
FKTN_000002
-
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
,
OMIM:var0002
-
-
Germline
-
-
AluI+
-
-
DNA
SEQ, SSCA
-
-
MDC
?
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.139C>T
r.(?)
p.(Arg47*)
Maternal (confirmed)
-
pathogenic
g.108358912C>T
g.105596631C>T
250C>T
-
FKTN_000002
-
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
,
OMIM:var0002
-
-
Germline
-
-
AluI+
-
-
DNA
SEQ, SSCA
-
-
MDC
?
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
-
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.139C>T
r.(?)
p.(Arg47*)
Paternal (confirmed)
-
pathogenic
g.108358912C>T
g.105596631C>T
250C>T
-
FKTN_000002
-
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
,
OMIM:var0002
-
-
Germline
-
-
AluI+
-
-
DNA
SEQ, SSCA
-
-
MDC
?
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
-
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.139C>T
r.(?)
p.(Arg47*)
Maternal (confirmed)
-
pathogenic
g.108358912C>T
g.105596631C>T
250C>T
-
FKTN_000002
-
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
,
OMIM:var0002
-
-
Germline
-
-
AluI+
-
-
DNA
SEQ, SSCA
-
-
MDC
?
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
-
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.139C>T
r.(?)
p.(Arg47*)
Paternal (confirmed)
-
pathogenic
g.108358912C>T
g.105596631C>T
-
-
FKTN_000002
-
PubMed: Yis 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WWS
20961758-Pat1
PubMed: Yis 2010
-
F
-
Greece;Croatia (Hrvatska)
-
-
-
-
-
2
Johan den Dunnen
+/.
4
c.139C>T
r.(?)
p.(Arg47*)
Parent #1
-
pathogenic
g.108358912C>T
g.105596631C>T
-
-
FKTN_000002
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
-
c.139C>T
r.(?)
p.(Arg47Ter)
Parent #1
-
pathogenic (recessive)
g.108358912C>T
g.105596631C>T
-
-
FKTN_000002
-
PubMed: Song 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MDDG
Pat123
PubMed: Song 2021
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.139C>T
r.(?)
p.(Arg47Ter)
Parent #1
-
pathogenic (recessive)
g.108358912C>T
g.105596631C>T
-
-
FKTN_000002
-
PubMed: Song 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MDDG
Pat124
PubMed: Song 2021
-
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.139C>T
r.(?)
p.(Arg47Ter)
Parent #1
-
pathogenic (recessive)
g.108358912C>T
g.105596631C>T
-
-
FKTN_000002
-
PubMed: Song 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MDDG
Pat126
PubMed: Song 2021
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
?/.
4
c.143T>C
r.(?)
p.(Ile48Thr)
Parent #1
-
VUS
g.108358916T>C
g.105596635T>C
-
-
FKTN_000096
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-/?
4i
c.165-6A>G
r.(spl?)
p.(?)
Unknown
-
benign
g.108358932A>G
-
-
-
FKTN_000031
Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message.
PubMed: Godfrey 2007
-
rs41277795
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
17878207.?
PubMed: Godfrey 2007
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.165G>T
r.spl?
p.(Trp55Cys)
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.108358938G>T
g.105596657G>T
-
-
FKTN_000162
ACMG PM2 PP3_S PM3
PubMed: Cavdarli 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
NMD
D55
PubMed: Cavdarli 2023
analysis 146 neuromuscular disease patients
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.165G>T
r.(?)
p.(Trp55Cys)
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.108358938G>T
g.105596657G>T
-
-
FKTN_000162
ACMG PM2 PP3 (very strong)
PubMed: Cavdarli 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
47-gene panel
MD
D55
PubMed: Cavdarli 2023
analysis 67 patients muscular dystrophy/myopathy (not DMD)
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.165+1G>T
r.spl?
p.?
Unknown
-
likely pathogenic
g.108358939G>T
-
FKTN(NM_001351502.2):c.-350+1G>T
-
FKTN_000142
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4i
c.165+6T>C
r.spl
p.?
Paternal (confirmed)
ACMG
likely pathogenic
g.108358944T>C
g.105596663T>C
-
-
FKTN_000153
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
MDDGC
Case 21
-
-
M
no
(Korea, South (Republic))
Korea
-
-
-
-
1
Young Jun Ko
?/.
4i
c.165+29A>G
r.(?)
p.(=)
Unknown
-
VUS
g.108358967A>G
g.105596686A>G
-
-
FKTN_000063
-
from website {DBsub-Emory}
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-?/.
4i
c.165+835T>G
r.(?)
p.(=)
Paternal (confirmed)
-
likely benign
g.108359773T>G
g.105597492T>G
chr9:108359773T>G
-
FKTN_000091
-
PubMed: Lim 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MDC
23453855-Pat4
PubMed: Lim 2013
2-generation family, affected sister/brother, unaffected heterozygous carrier parents
F
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.165+1427A>G
r.spl
p.?
Unknown
-
pathogenic
g.108360365A>G
g.105598084A>G
NM_001351497.1:c.-2-2A>G
-
FKTN_000149
ACMG PVS1 PM2 PM3 PP3; no genotypes reported
PubMed: Nguyen 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
58-gene panel
CMD
Pat147
PubMed: Nguyen 2021
-
-
-
Viet Nam
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.165+1491G>A
r.(=)
p.(=)
Unknown
-
likely benign
g.108360429G>A
g.105598148G>A
FKTN(NM_001351497.2):c.61G>A (p.A21T)
-
FKTN_000123
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.166-6A>G
r.(=)
p.(=)
Unknown
-
benign
g.108363420A>G
g.105601139A>G
FKTN(NM_001079802.1):c.166-6A>G (p.(=), ), FKTN(NM_006731.2):c.166-6A>G
-
FKTN_000064
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.166-6A>G
r.(=)
p.(=)
Unknown
-
benign
g.108363420A>G
g.105601139A>G
FKTN(NM_001079802.1):c.166-6A>G (p.(=), ), FKTN(NM_006731.2):c.166-6A>G
-
FKTN_000064
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.166-6A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.108363420A>G
g.105601139A>G
FKTN(NM_001079802.1):c.166-6A>G (p.(=), ), FKTN(NM_006731.2):c.166-6A>G
-
FKTN_000064
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
4i
c.166-6A>G
r.(?)
p.(=)
Unknown
-
VUS
g.108363420A>G
g.105601139A>G
-
-
FKTN_000064
-
from website {DBsub-Emory}
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
4i
c.166-4A>G
r.(?)
p.(ins)
Parent #1
-
VUS
g.108363422A>G
g.105601141A>G
-
-
FKTN_000046
predicted by in an silico model to create a new splice acceptor
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
WWS
?
-
-
-
-
United States
-
-
-
-
-
1
Tom Winder
?/.
4i
c.166-4A>G
r.spl
p.?
Parent #1
-
VUS
g.108363422A>G
g.105601141A>G
-
-
FKTN_000046
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
-
c.166-4A>G
r.spl?
p.?
Unknown
-
VUS
g.108363422A>G
g.105601141A>G
FKTN(NM_006731.2):c.166-4A>G
-
FKTN_000046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.166C>T
r.(?)
p.(Arg56Cys)
Unknown
-
likely benign
g.108363426C>T
g.105601145C>T
FKTN(NM_001079802.1):c.166C>T (p.(Arg56Cys), p.R56C), FKTN(NM_001079802.2):c.166C>T (p.R56C)
-
FKTN_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.166C>T
r.(?)
p.(Arg56Cys)
Unknown
-
benign
g.108363426C>T
g.105601145C>T
FKTN(NM_001079802.1):c.166C>T (p.(Arg56Cys), p.R56C), FKTN(NM_001079802.2):c.166C>T (p.R56C)
-
FKTN_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.166C>T
r.(?)
p.(Arg56Cys)
Unknown
-
likely benign
g.108363426C>T
g.105601145C>T
FKTN(NM_001079802.1):c.166C>T (p.(Arg56Cys), p.R56C), FKTN(NM_001079802.2):c.166C>T (p.R56C)
-
FKTN_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/?
5
c.166C>T
r.(spl?)
p.(Arg56Cys)
Unknown
-
benign
g.108363426C>T
g.105601145C>T
165C>T (erroneous)
-
FKTN_000030
-
PubMed: Godfrey 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
17878207.?
PubMed: Godfrey 2007
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
5
c.166C>T
r.(spl?)
p.(Arg56Cys)
Parent #1
-
likely benign
g.108363426C>T
g.105601145C>T
-
-
FKTN_000030
-
PubMed: Bouchet 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LIS
?
PubMed: Bouchet 2007
aborted fetus
-
-
(France)
-
<0y
-
-
-
1
Johan den Dunnen
-?/.
5
c.166C>T
r.(spl?)
p.(Arg56Cys)
Parent #1
-
likely benign
g.108363426C>T
g.105601145C>T
-
-
FKTN_000030
-
PubMed: Bouchet 2007
-
-
Germline
-
7/214
-
-
-
DNA
SEQ
-
-
Healthy/Control
?
PubMed: Bouchet 2007
-
-
-
France
-
-
-
-
-
7
Johan den Dunnen
-/?
5
c.166C>T
r.(?)
p.(Arg56Cys)
Unknown
-
benign
g.108363426C>T
g.105601145C>T
-
-
FKTN_000030
-
from website {DBsub-Emory}
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
-
c.166C>T
r.(?)
p.(Arg56Cys)
Parent #1
-
VUS
g.108363426C>T
g.105601145C>T
-
-
FKTN_000030
conflicting interpretations of pathogenicity; 11 heterozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs41277797
Germline
-
11/2794 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
11
Mohammed Faruq
?/.
-
c.166C>T
r.(?)
p.(Arg56Cys)
Both (homozygous)
-
VUS
g.108363426C>T
g.105601145C>T
-
-
FKTN_000030
conflicting interpretations of pathogenicity; 1 homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs41277797
Germline
-
1/2794 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
-?/.
-
c.167G>A
r.(?)
p.(Arg56His)
Unknown
-
likely benign
g.108363427G>A
g.105601146G>A
FKTN(NM_001079802.1):c.167G>A (p.(Arg56His)), FKTN(NM_001351497.1):c.98G>A (p.R33H)
-
FKTN_000065
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.167G>A
r.(?)
p.(Arg56His)
Unknown
-
likely benign
g.108363427G>A
g.105601146G>A
FKTN(NM_001079802.1):c.167G>A (p.(Arg56His)), FKTN(NM_001351497.1):c.98G>A (p.R33H)
-
FKTN_000065
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
5
c.167G>A
r.(?)
p.(Arg56His)
Unknown
-
VUS
g.108363427G>A
g.105601146G>A
-
-
FKTN_000065
-
from website {DBsub-Emory}
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
-
c.175_180del
r.(?)
p.(Lys59_Lys60del)
Parent #2
-
pathogenic (recessive)
g.108363435_108363440del
g.105601154_105601159del
c.175-180del
-
FKTN_000156
-
PubMed: Song 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MDDG
Pat128
PubMed: Song 2021
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.187A>G
r.(?)
p.(Met63Val)
Unknown
-
likely benign
g.108363447A>G
-
FKTN(NM_006731.2):c.187A>G (p.M63V)
-
FKTN_000151
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.187_188del
r.(?)
p.(Met63Valfs*13)
Maternal (confirmed)
-
pathogenic
g.108363447_108363448del
g.105601166_105601167del
-
-
FKTN_000003
haplotype D9S2105-D9S2170-D9S2171-D9S2107 as 138-195-143-191
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
,
OMIM:var0003
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
MDC
?
PubMed: Kobayashi 1998
,
PubMed: Kondo-Iida 1999
father US (UK/German ancestry)
F
-
Japan;United States
white; Asian
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.207T>C
r.(?)
p.(Asn69=)
Unknown
-
likely benign
g.108363467T>C
g.105601186T>C
FKTN(NM_001079802.1):c.207T>C (p.(Asn69=), p.N69=), FKTN(NM_006731.2):c.207T>C (p.N69=)
-
FKTN_000124
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.207T>C
r.(?)
p.(Asn69=)
Unknown
-
likely benign
g.108363467T>C
g.105601186T>C
FKTN(NM_001079802.1):c.207T>C (p.(Asn69=), p.N69=), FKTN(NM_006731.2):c.207T>C (p.N69=)
-
FKTN_000124
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.207T>C
r.(?)
p.(Asn69=)
Unknown
-
likely benign
g.108363467T>C
-
FKTN(NM_001079802.1):c.207T>C (p.(Asn69=), p.N69=), FKTN(NM_006731.2):c.207T>C (p.N69=)
-
FKTN_000124
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.218T>C
r.(?)
p.(Phe73Ser)
Both (homozygous)
-
pathogenic (recessive)
g.108363478T>C
g.105601197T>C
-
-
FKTN_000141
-
PubMed: Makrythanasis 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
Family_13
PubMed: Makrythanasis 2014
family, 3 affected
-
yes
Egypt
-
-
-
-
-
3
Johan den Dunnen
?/.
-
c.239T>C
r.(?)
p.(Leu80Pro)
Unknown
-
VUS
g.108363499T>C
g.105601218T>C
FKTN(NM_001351497.2):c.170T>C (p.L57P)
-
FKTN_000125
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.266A>G
r.(?)
p.(Gln89Arg)
Unknown
-
likely benign
g.108363526A>G
g.105601245A>G
FKTN(NM_001079802.1):c.266A>G (p.(Gln89Arg))
-
FKTN_000132
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.277A>G
r.(?)
p.(Thr93Ala)
Unknown
-
VUS
g.108363537A>G
g.105601256A>G
FKTN(NM_001351497.1):c.208A>G (p.T70A)
-
FKTN_000074
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.285T>C
r.(?)
p.(His95=)
Unknown
-
likely benign
g.108363545T>C
-
FKTN(NM_006731.2):c.285T>C (p.H95=)
-
FKTN_000143
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
5
c.293C>T
r.(?)
p.(Thr98Ile)
Parent #1
-
VUS
g.108363553C>T
g.105601272C>T
-
-
FKTN_000097
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
5
c.296C>T
r.(?)
p.(Ser99Leu)
Parent #1
-
VUS
g.108363556C>T
g.105601275C>T
-
-
FKTN_000098
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+?/.
-
c.301T>A
r.(?)
p.(Cys101Ser)
Parent #2
ACMG
likely pathogenic (recessive)
g.108363561T>A
g.105601280T>A
-
-
FKTN_000163
ACMG PP2 PM2 PP3 PM3
PubMed: Cavdarli 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
NMD
D63
PubMed: Cavdarli 2023
analysis 146 neuromuscular disease patients
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.301T>A
r.(?)
p.(Cys101Ser)
Parent #2
ACMG
pathogenic
g.108363561T>A
g.105601280T>A
-
-
FKTN_000163
ACMG PP2 PM2 PP3 PM3
PubMed: Cavdarli 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
47-gene panel
MD
D63
PubMed: Cavdarli 2023
analysis 67 patients muscular dystrophy/myopathy (not DMD)
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
?/.
5
c.301T>C
r.(?)
p.(Cys101Arg)
Parent #1
-
VUS
g.108363561T>C
g.105601280T>C
-
-
FKTN_000099
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
5
c.302G>T
r.(?)
p.(Cys101Phe)
Unknown
-
pathogenic
g.108363562G>T
g.105601281G>T
-
-
FKTN_000037
-
PubMed: Arimura 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CMD
?
PubMed: Arimura 2008
-
F
-
Japan
-
>19y
-
-
-
1
Rosário dos Santos
+?/.
-
c.314G>A
r.(?)
p.(Cys105Tyr)
Unknown
-
likely pathogenic
g.108363574G>A
g.105601293G>A
FKTN(NM_001079802.1):c.314G>A (p.C105Y)
-
FKTN_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
4
c.314G>T
r.(?)
p.(Cys105Phe)
Both (homozygous)
-
VUS
g.108363574G>T
g.105601293G>T
-
-
FKTN_000056
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CMD
?
-
-
M
-
Saudi Arabia
Arab
-
-
-
-
1
Tom Winder
+?/.
4
c.314G>T
r.(?)
p.(Cys105Phe)
Both (homozygous)
-
likely pathogenic
g.108363574G>T
g.105601293G>T
-
-
FKTN_000056
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
MD
?
-
-
M
-
Saudi Arabia
Arab
-
-
-
-
1
Tom Winder
+/.
-
c.314G>T
r.(?)
p.(Cys105Phe)
Both (homozygous)
ACMG
pathogenic
g.108363574G>T
g.105601293G>T
-
-
FKTN_000056
ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4
PubMed: Monies 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
759-gene panel neurological disorders
LGMD
Fam22 / 10R-00973
PubMed: Monies 2016
759-gene panel analysis 50 patients suspected of LGMD
-
-
Saudi Arabia
-
-
-
-
-
1
Johan den Dunnen
+/.
5
c.330dup
r.(?)
p.(Thr111Tyrfs*13)
Parent #1
-
pathogenic
g.108363590dup
g.105601309dup
330dupT
-
FKTN_000100
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
5
c.340G>A
r.(?)
p.(Ala114Thr)
Paternal (confirmed)
-
pathogenic
g.108363600G>A
g.105601319G>A
-
-
FKTN_000022
-
PubMed: Puckett 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CMD
19342235.b
PubMed: Puckett 2009
older brother of 07-141; mother Japanese, father Caucasian
M
no
Japan;United States
Asia;white
-
-
-
-
1
Tom Winder
+/.
5
c.340G>A
r.(?)
p.(Ala114Thr)
Paternal (confirmed)
-
pathogenic
g.108363600G>A
g.105601319G>A
-
-
FKTN_000022
-
PubMed: Puckett 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
PubMed: Puckett 2009
younger brother of 19342235.b; mother Japanese, father Caucasian
M
no
Japan;United States
Asia;white
-
-
-
-
1
Tom Winder
+/.
5
c.340G>A
r.(?)
p.(Ala114Thr)
Parent #1
-
pathogenic
g.108363600G>A
g.105601319G>A
-
-
FKTN_000022
-
PubMed: Godfrey 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
FamPat31a/Pat45
PubMed: Godfrey 2007
,
PubMed: O'Grady 2016
2-generation family, 2 affected, unaffected heterozygous carrier parents
F
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
5
c.340G>A
r.(?)
p.(Ala114Thr)
Parent #1
-
pathogenic
g.108363600G>A
g.105601319G>A
-
-
FKTN_000022
-
PubMed: Godfrey 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
FamPat31b
PubMed: Clement
-Pat2,
PubMed: Godfrey 2007
relative of FamPat31a
?
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.345_346delGCinsCT
r.(?)
p.(Gln116Ter)
Parent #1
ACMG
pathogenic (recessive)
g.108363605_108363606delinsCT
g.105601324_105601325delinsCT
-
-
FKTN_000011
ACMG PVS1 PM2 PP5
PubMed: Cavdarli 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
47-gene panel
MD
D63
PubMed: Cavdarli 2023
analysis 67 patients muscular dystrophy/myopathy (not DMD)
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
5
c.345_346delinsCT
r.(?)
p.(Gln116*)
Parent #1
-
pathogenic
g.108363605_108363606delinsCT
g.105601324_105601325delinsCT
-
-
FKTN_000011
not in 210 control chromosomes (Netherlands, Turkey)
PubMed: Beltran-Valero 2003
,
OMIM:var0007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WWS
Pat1
PubMed: Beltran-Valero 2003
first cousin parents
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
5
c.345_346delinsCT
r.(?)
p.(Gln116*)
Parent #2
-
pathogenic
g.108363605_108363606delinsCT
g.105601324_105601325delinsCT
-
-
FKTN_000011
not in 210 control chromosomes (Netherlands, Turkey)
PubMed: Beltran-Valero 2003
,
OMIM:var0007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WWS
Pat1
PubMed: Beltran-Valero 2003
first cousin parents
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
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