Global Variome shared LOVD
FKRP (fukutin related protein)
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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
The variants shown are described using the NM_024301.4 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)
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
Text
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|
Text
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
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=""
Text
="p.0"
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!=""
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!=""
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!=""
Text
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combination
Text
*|Ter !fs
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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
+/.
-
826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Stehlikova 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
LGMD-Pat80
PubMed: Stehlikova 2014
-
-
-
Czech Republic
-
-
-
-
-
1
Johan den Dunnen
+/+
4
c.826C>A
r.(?)
p.(Leu276Ile)
Unknown
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
-
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/+
4
c.826C>A
r.(?)
p.(Leu276Ile)
Unknown
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
-
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/+
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Maternal (confirmed)
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Navarro-Cobos 2017
-
rs28937900
Germline
yes
1/120 NMD case chromosomes
-
-
-
DNA
SEQ
Peripheral blood leokocytes
-
MDDGC5;LGMDR9;LGMD2I
Pat1
PubMed: Navarro-Cobos 2017
2-generation family, patient and milder affected sister, unaffected heterozygous carrier parents
M
no
Mexico
Mexican
>10y
-
yes
-
2
Miguel Angel Alcántara-Ortigoza
+/+
4
c.826C>A
r.(?)
p.(Leu276Ile)
Both (homozygous)
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
C826A
-
FKRP_000001
-
PubMed: de Paula 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
LGMD
11251997-FamPat3
PubMed: de Paula 2001
,
PubMed: de Paula 2003
3-generation family, 1 affected, unaffected heterozygous carrier son/daughter
F
yes
Brazil
-
-
-
-
-
3
Johan den Dunnen
+/+
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: de Paula 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
Healthy/Control
11251997-FamS
PubMed: de Paula 2001
,
PubMed: de Paula 2003
sister
F
-
Brazil
-
-
-
-
-
1
Johan den Dunnen
+/+
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: de Paula 2003
-
-
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
Healthy/Control
11251997-FamS/D
PubMed: de Paula 2001
,
PubMed: de Paula 2003
brother
M
-
Brazil
-
>41y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Brockington
,
OMIM:var0004
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam8 / ..
PubMed: Brockington
,
OMIM:var0004
-
-
no
-
-
-
-
-
-
4
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Brockington
,
OMIM:var0004
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam8 / ..
PubMed: Brockington
,
OMIM:var0004
-
-
no
-
-
-
-
-
-
4
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
1, 3
PubMed: Walter
-
F;M
yes
Germany
-
-
-
-
-
1
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
1, 3
PubMed: Walter
-
F;M
yes
Germany
-
-
-
-
-
1
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
4, 5, ..
PubMed: Walter
8 cases families non-consanguineous parents
F;M
yes
Germany
-
-
-
-
-
8
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
4, 5, ..
PubMed: Walter
8 cases families non-consanguineous parents
F;M
yes
Germany
-
-
-
-
-
8
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
6, 13
PubMed: Walter
-
F
-
Germany
-
-
-
-
-
3
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
6, 13
PubMed: Walter
-
F
-
Germany
-
-
-
-
-
3
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
2
PubMed: Walter
-
M
-
Croatia (Hrvatska)
-
-
-
-
-
3
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
2
PubMed: Walter
-
M
-
Croatia (Hrvatska)
-
-
-
-
-
3
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Brockington
,
PubMed: Mercuri
,
OMIM:var0004
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam6 / Fam16
PubMed: Brockington
,
PubMed: Mercuri
,
OMIM:var0004
2 non-consanguineous families
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Brockington
,
PubMed: Mercuri
,
OMIM:var0004
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam6 / Fam16
PubMed: Brockington
,
PubMed: Mercuri
,
OMIM:var0004
2 non-consanguineous families
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
shared alleles from D19S412 to D19S540
PubMed: Frosk
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
?
PubMed: Frosk
European origin, 19 affecteds 5 families
-
-
United States
Hutterite
-
-
-
-
19
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
shared alleles from D19S412 to D19S540
PubMed: Frosk
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
?
PubMed: Frosk
European origin, 19 affecteds 5 families
-
-
United States
Hutterite
-
-
-
-
19
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Muller 2005
,
PubMed: Gaul 2006
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
SEQ
-
-
MD
II-1
PubMed: Muller 2005
,
PubMed: Gaul 2006
brothers
M
-
Germany
-
-
-
-
-
3
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Muller 2005
,
PubMed: Gaul 2006
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
SEQ
-
-
MD
II-1
PubMed: Muller 2005
,
PubMed: Gaul 2006
brothers
M
-
Germany
-
-
-
-
-
3
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Sveen WMS2005 L.P.3.06
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
SEQ
-
-
LGMD2
?
Sveen WMS2005 L.P.3.06
28 patients
-
-
Denmark
-
-
-
-
-
28
Marianne Schwartz
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Sveen WMS2005 L.P.3.06
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
SEQ
-
-
LGMD2
?
Sveen WMS2005 L.P.3.06
28 patients
-
-
Denmark
-
-
-
-
-
28
Marianne Schwartz
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Both (homozygous)
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Ginjaar WMS2005,
PubMed: Ten Dam 2019
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
Ginjaar WMS2005,
PubMed: Ten Dam 2019
-
F
-
Netherlands
-
>26y
-
-
-
1
Ieke Ginjaar
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Boito 2005
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
DHPLC
-
-
LGMD2
Pat3
PubMed: Boito 2005
adopted
M
-
Italy
-
>42y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Boito 2005
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
DHPLC
-
-
LGMD2
Pat3
PubMed: Boito 2005
adopted
M
-
Italy
-
>42y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Boito 2005
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
DHPLC
-
-
LGMD2
Pat8
PubMed: Boito 2005
7 affecteds, 5M [one asymptomatic], 2F
F;M
-
Italy
-
-
-
-
-
7
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Boito 2005
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
DHPLC
-
-
LGMD2
Pat8
PubMed: Boito 2005
7 affecteds, 5M [one asymptomatic], 2F
F;M
-
Italy
-
-
-
-
-
7
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Boito 2005
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
DHPLC
-
-
LGMD2
Pat18
PubMed: Boito 2005
-
F
-
Italy
-
>63y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Boito 2005
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
DHPLC
-
-
LGMD2
Pat18
PubMed: Boito 2005
-
F
-
Italy
-
>63y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: de Paula 2003
;
PubMed: Yamamoto 2008
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
DHPLC, SEQ
-
-
LGMD2
Fam4; patient 3
PubMed: de Paula 2003
;
PubMed: Yamamoto 2008
-
F
-
Brazil
-
>24y
-
-
-
2
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: de Paula 2003
;
PubMed: Yamamoto 2008
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
DHPLC, SEQ
-
-
LGMD2
Fam4; patient 3
PubMed: de Paula 2003
;
PubMed: Yamamoto 2008
-
F
-
Brazil
-
>24y
-
-
-
2
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
?
-
-
F
-
Germany
-
>30y
-
-
-
1
Lab Müller-Reible
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
?
-
-
F
-
Germany
-
>30y
-
-
-
1
Lab Müller-Reible
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Freixas ESHG2006 P0925
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
SEQ
-
-
LGMD
?
Freixas ESHG2006 P0925
-
F;M
no
Spain
-
-
-
-
-
3
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Freixas ESHG2006 P0925
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
SEQ
-
-
LGMD
?
Freixas ESHG2006 P0925
-
F;M
no
Spain
-
-
-
-
-
3
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Freixas ESHG2006 P0925
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
SEQ
-
-
LGMD
?
Freixas ESHG2006 P0925
-
-
no
Croatia (Hrvatska)
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Freixas ESHG2006 P0925
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
SEQ
-
-
LGMD
?
Freixas ESHG2006 P0925
-
-
no
Croatia (Hrvatska)
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Both (homozygous)
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Ten Dam 2019
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
PubMed: Ten Dam 2019
2-generation family, affected brother/sister, unaffected heterozygous carrier parents
M
-
Netherlands
-
-
-
-
-
2
Ieke Ginjaar
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Both (homozygous)
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Ten Dam 2019
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
PubMed: Ten Dam 2019
-
F
-
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Both (homozygous)
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Ten Dam 2019
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
PubMed: Ten Dam 2019
-
F
-
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Both (homozygous)
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Ten Dam 2019
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
PubMed: Ten Dam 2019
2-generation family, 2 affected brothers, unaffected heterozygous carrier parents
M
-
Netherlands
-
-
-
-
-
2
Ieke Ginjaar
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Both (homozygous)
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Ten Dam 2019
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
PubMed: Ten Dam 2019
-
F
-
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Both (homozygous)
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Ten Dam 2019
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
PubMed: Ten Dam 2019
-
F
-
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Gaul 2006
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
PCRdig
-
-
LGMD
Pat4
PubMed: Gaul 2006
myoglobin: 9x
F
-
Germany
-
>24y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Gaul 2006
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
PCRdig
-
-
LGMD
Pat4
PubMed: Gaul 2006
myoglobin: 9x
F
-
Germany
-
>24y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Gaul 2006
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
PCRdig
-
-
LGMD
Pat5
PubMed: Gaul 2006
-
M
-
Germany
-
>47y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Gaul 2006
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
PCRdig
-
-
LGMD
Pat5
PubMed: Gaul 2006
-
M
-
Germany
-
>47y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Gaul 2006
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
PCRdig
-
-
LGMD
Pat6
PubMed: Gaul 2006
myoglobin: 8x
F
-
Germany
-
>17y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Gaul 2006
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
PCRdig
-
-
LGMD
Pat6
PubMed: Gaul 2006
myoglobin: 8x
F
-
Germany
-
>17y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Gaul 2006
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
PCRdig
-
-
LGMD
Fam5-7 / 8 / 9
PubMed: Gaul 2006
myoglobin: 1.5x
F;M
-
Germany
-
-
-
-
-
3
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Gaul 2006
-
rs28937900
Germline
-
-
BfaI-;FspBI+
-
-
DNA
PCRdig
-
-
LGMD
Fam5-7 / 8 / 9
PubMed: Gaul 2006
myoglobin: 1.5x
F;M
-
Germany
-
-
-
-
-
3
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Reilich, Acta Myol. XXV:73
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
Pat1
Reilich, Acta Myol. XXV:73
founder allele
M
-
Germany
Hutterite
>46y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Reilich, Acta Myol. XXV:73
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
Pat1
Reilich, Acta Myol. XXV:73
founder allele
M
-
Germany
Hutterite
>46y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Reilich, Acta Myol. XXV:73
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
Pat2
Reilich, Acta Myol. XXV:73
Hutterite founder allele
?
no
Germany
Hutterite
>45y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Reilich, Acta Myol. XXV:73
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
Pat2
Reilich, Acta Myol. XXV:73
Hutterite founder allele
?
no
Germany
Hutterite
>45y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Brockington
,
OMIM:var0004
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam9
PubMed: Brockington
,
OMIM:var0004
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Brockington
,
PubMed: Mercuri
,
OMIM:var0004
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam2 / Fam4
PubMed: Brockington
,
PubMed: Mercuri
,
OMIM:var0004
-
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: von der Hagen 2006
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
MD
1 / 2
PubMed: von der Hagen 2006
-
M
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Brockington
,
PubMed: Mercuri
,
OMIM:var0004
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam3, 5, 12, 17
PubMed: Brockington
,
PubMed: Mercuri
,
OMIM:var0004
-
-
-
-
-
-
-
-
-
4
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
?
-
-
F
-
Germany
-
-
-
-
-
1
Lab Müller-Reible
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Ginjaar WMS2005,
PubMed: Ten Dam 2019
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
Ginjaar WMS2005,
PubMed: Ten Dam 2019
-
F
yes
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Brockington
,
OMIM:var0004
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam7
PubMed: Brockington
,
OMIM:var0004
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Brockington
,
PubMed: Mercuri
,
OMIM:var0004
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam10/Fam13
PubMed: Brockington
,
PubMed: Mercuri
,
OMIM:var0004
-
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #2
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
15
PubMed: Walter
-
F
-
Germany
-
-
-
-
-
1
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
14
PubMed: Walter
-
M
-
Germany
-
-
-
-
-
1
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Mercuri
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam7 (pat9)
PubMed: Mercuri
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
17
PubMed: Walter
-
F
-
Germany
-
-
-
-
-
1
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
18
PubMed: Walter
-
M
-
Germany
-
-
-
-
-
1
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
19
PubMed: Walter
-
F
-
Germany
-
-
-
-
-
1
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Walter
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
20
PubMed: Walter
-
F
-
Germany
-
-
-
-
-
1
Rolf Stucka
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Mercuri
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam6-Pat7 / ..
PubMed: Mercuri
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Mercuri
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam9 ..
PubMed: Mercuri
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Mercuri
,
PubMed: Quijano-Roy 2006
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam10 ..
PubMed: Mercuri
,
PubMed: Quijano-Roy 2006
sibs
F;M
-
France
-
-
-
-
-
2
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Mercuri
,
PubMed: Torelli 2005
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam12 P17
PubMed: Mercuri
,
PubMed: Torelli 2005
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Mercuri
,
PubMed: Torelli 2005
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
Fam14 P19
PubMed: Mercuri
,
PubMed: Torelli 2005
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Sveen WMS2005 L.P.3.06
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD
?
Sveen WMS2005 L.P.3.06
-
-
-
Denmark
-
-
-
-
-
1
Marianne Schwartz
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Sveen WMS2005 L.P.3.06
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD
?
Sveen WMS2005 L.P.3.06
-
-
-
Denmark
-
-
-
-
-
1
Marianne Schwartz
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Sveen WMS2005 L.P.3.06
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD
?
Sveen WMS2005 L.P.3.06
-
-
-
Denmark
-
-
-
-
-
2
Marianne Schwartz
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
?
-
-
-
-
Germany
-
-
-
-
-
1
Lab Müller-Reible
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
?
-
-
-
-
Germany
-
-
-
-
-
1
Lab Müller-Reible
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD
181/LGMD
-
-
F
-
Portugal
-
>4y
-
-
-
1
Rosário dos Santos
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Frosk
, {DB: Winnipeg}
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
NCL-08
PubMed: Frosk
, {DB: Winnipeg}
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Frosk
, {DB: Winnipeg}
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
NCL-10
PubMed: Frosk
, {DB: Winnipeg}
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Frosk
,
PubMed: de Paula 2003
, {DB: Winnipeg};
PubMed: Yamamoto 2008
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
DHPLC, SEQ
-
-
LGMD2
C17.553; Fam12; pat. 10
PubMed: Frosk
,
PubMed: de Paula 2003
, {DB: Winnipeg};
PubMed: Yamamoto 2008
-
M
no
Brazil
-
>51y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Frosk
, {DB: Winnipeg}
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
SEQ
-
-
LGMD2
G-04
PubMed: Frosk
, {DB: Winnipeg}
-
-
-
Canada
Germany
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
?
-
-
-
-
Germany
-
-
-
-
-
1
Lab Müller-Reible
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
?
-
-
-
-
Germany
-
-
-
-
-
1
Lab Müller-Reible
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Ginjaar WMS2005
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
-
-
-
-
Netherlands
-
>13y
-
-
-
1
Ieke Ginjaar
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
?
-
-
M
-
Germany
-
>7y
-
-
-
1
Lab Müller-Reible
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Torelli 2005
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
Pat8
PubMed: Torelli 2005
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
?
-
-
M
-
United States
-
-
-
-
-
1
Akanchha Kesari
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Kesari 2008
-
rs28937900
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
LGMD2
?
PubMed: Kesari 2008
-
F
-
United States
-
>25y
-
-
-
1
Akanchha Kesari
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
-
-
M
-
United States
-
-
-
-
-
1
Akanchha Kesari
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
-
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
?
-
-
F
-
United States
-
-
-
-
-
1
Akanchha Kesari
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
PubMed: Boito 2005
-
rs28937900
Germline
-
-
BfaI-
-
-
DNA
DHPLC
-
-
LGMD2
Pat7
PubMed: Boito 2005
-
M
-
Italy
-
>42y
-
-
-
1
Johan den Dunnen
+/.
4
c.826C>A
r.(?)
p.(Leu276Ile)
Parent #1
-
pathogenic (recessive)
g.47259533C>A
g.46756276C>A
-
-
FKRP_000001
-
Sveen WMS2005 L.P.3.06
-
rs28937900
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
?
Sveen WMS2005 L.P.3.06
-
-
-
Denmark
-
-
-
-
-
2
Marianne Schwartz
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