Global Variome shared LOVD
PIGN (phosphatidylinositol glycan anchor biosynthes...)
LOVD v.3.0 Build 30b [
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Curator:
Philippe Campeau
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The variants shown are described using the NM_176787.4 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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Example
Matches
Text
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space
Text
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|
Text
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!
Text
!fs
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^p.(Arg
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$
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=""
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!=""
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combination
Text
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Date
2020
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Date
2020-03|2020-04
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Date
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<
Date
<2020
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Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
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Numeric
23
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Numeric
23|24
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!
Numeric
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<
Numeric
<23
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Numeric
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Numeric
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Numeric
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combination
Numeric
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Example
Matches
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142 entries on 2 pages. Showing entries 1 - 100.
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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.-18161339_*11350425del
r.0?
p.0?
Unknown
-
pathogenic
g.48362664_78015180del
-
-
-
ATP8B1_000025
mosaicism, hemizygous in 0.46 cells
PubMed: DDDS 2015
,
Journal: DDDS 2015
-
-
Somatic
-
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
?
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, 1 affected
F
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
1
Johan den Dunnen
?/.
-
c.-1207C>T
r.(?)
p.(=)
Unknown
-
VUS
g.59855048G>A
g.62187815G>A
KIAA1468(NM_020854.3):c.310G>A (p.D104N)
-
KIAA1468_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-1045C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.59854886G>A
g.62187653G>A
KIAA1468(NM_020854.3):c.148G>A (p.(Gly50Ser))
-
KIAA1468_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-110+4A>C
r.spl?
p.?
Unknown
-
VUS
g.59830760T>G
-
PIGN(NM_176787.5):c.-110+4A>C
-
PIGN_000107
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.76T>A
r.(?)
p.(Ser26Thr)
Unknown
-
VUS
g.59828511A>T
-
PIGN(NM_176787.4):c.76T>A (p.(Ser26Thr))
-
PIGN_000113
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.94del
r.(?)
p.(Met32*)
Maternal (confirmed)
-
pathogenic (recessive)
g.59828494del
g.62161261del
94_94delA
-
PIGN_000066
-
PubMed: Martinez 2017
,
Journal: Martinez 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
1256 gene panel
ID
27620904-Pat27
PubMed: Martinez 2017
,
Journal: Martinez 2017
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.121C>T
r.(?)
p.(Pro41Ser)
Unknown
-
VUS
g.59828466G>A
g.62161233G>A
PIGN(NM_012327.5):c.121C>T (p.(Pro41Ser))
-
PIGN_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.133_135del
r.(?)
p.(Arg45del)
Unknown
-
likely pathogenic
g.59828455_59828457del
-
-
-
PIGN_000102
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.137T>G
r.(?)
p.(Leu46*)
Unknown
-
likely pathogenic
g.59828450A>C
-
-
-
PIGN_000114
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.167C>T
r.(?)
p.(Ala56Val)
Unknown
-
likely benign
g.59828420G>A
g.62161187G>A
PIGN(NM_012327.5):c.167C>T (p.(Ala56Val)), PIGN(NM_176787.4):c.167C>T (p.A56V)
-
PIGN_000046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.167C>T
r.(?)
p.(Ala56Val)
Unknown
-
benign
g.59828420G>A
g.62161187G>A
PIGN(NM_012327.5):c.167C>T (p.(Ala56Val)), PIGN(NM_176787.4):c.167C>T (p.A56V)
-
PIGN_000046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.167C>T
r.(?)
p.(Ala56Val)
Parent #1
-
benign
g.59828420G>A
g.62161187G>A
-
-
PIGN_000046
24 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs61755362
Germline
-
24/2794 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
24
Mohammed Faruq
?/.
-
c.170A>G
r.(?)
p.(Asp57Gly)
Unknown
-
VUS
g.59828417T>C
-
PIGN(NM_176787.4):c.170A>G (p.(Asp57Gly))
-
PIGN_000112
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.181G>T
r.(?)
p.(Glu61*)
Maternal (confirmed)
-
likely pathogenic
g.59828406C>A
g.62161173C>A
-
-
PIGN_000059
-
PubMed: Thiffault et al. 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
peripheral blood
WES
-
-
PubMed: Thiffault 2017
-
M
-
-
-
-
-
-
-
1
Philippe Campeau
-?/.
-
c.213G>A
r.(?)
p.(Pro71=)
Unknown
-
likely benign
g.59828374C>T
g.62161141C>T
PIGN(NM_176787.4):c.213G>A (p.P71=)
-
PIGN_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.214_1620del
r.(?)
p.(Phe72_Pro540del)
Maternal (confirmed)
-
likely pathogenic
g.59774273_59828373del
g.62107040_62161140del
-
-
PIGN_000064
Deletion of exons 2-14. Also carried by healthy sibling
PubMed: Nakagawa et al. 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
Target exome sequencing of the 26 genes related to GPI-APs
epilepsy, ID
-
PubMed: Nakagawa et al.2015
-
M
no
Japan
-
-
-
-
-
1
Philippe Campeau
-?/.
-
c.253A>G
r.(?)
p.(Ile85Val)
Unknown
-
likely benign
g.59825010T>C
g.62157777T>C
PIGN(NM_012327.5):c.253A>G (p.(Ile85Val))
-
PIGN_000044
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
5
c.284G>A
r.(?)
p.(Arg95Gln)
Paternal (confirmed)
-
likely pathogenic
g.59824979C>T
g.62157746C>T
-
-
PIGN_000060
-
PubMed: Thiffault et al. 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
peripheral blood
WES
-
-
PubMed: Thiffault 2017
-
M
-
-
-
-
-
-
-
1
Philippe Campeau
+/.
-
c.284G>A
r.(?)
p.(Arg95Gln)
Unknown
-
pathogenic
g.59824979C>T
-
-
-
PIGN_000060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.310G>A
r.(?)
p.(Gly104Arg)
Both (homozygous)
ACMG
VUS
g.59824953C>T
-
-
-
PIGN_000096
ACMG PM2_SUP, PM3_SUP, PP3
-
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
MCAHS1;GPIBD3
187571
-
-
M
yes
-
Arabian
-
-
-
-
1
Andreas Laner
+?/.
5_7i
c.(221_324)_(549+196_550-1)del
r.?
p.?
Paternal (confirmed)
-
likely pathogenic
g.(59815572_59821582)_(59824939_59828366)del
-
chr18:59,821,582-59,824,939
-
PIGN_000061
-
PubMed: Fleming et al. 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
-
Patient_4
PubMed: Fleming 2016
-
F
-
-
white - African American
-
-
-
-
1
Philippe Campeau
?/.
5
c.329G>A
r.(?)
p.(Ser110Asn)
Parent #1
-
VUS
g.59824934C>T
g.62157701C>T
-
-
PIGN_000092
-
PubMed: Ganapathy 2019
-
rs746450459
Germline
-
-
-
-
-
DNA
SEQ-NG
-
TruSight One panel
?
S-2534
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.329_549+1908del
r.spl?
p.?
Both (homozygous)
-
likely pathogenic
g.59819870_59824934del
g.62152637_62157701del
-
-
PIGN_000062
-
PubMed: Alessandri et al.2018
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
exons 5–7 of PIGN as predicted by WES and XHMM software
FRNS
Patient_1
PubMed: Alessandri 2018
-
M
no
Reunion
-
00y00m08d
-
-
-
2
Philippe Campeau
+?/.
-
c.329_549+1908del
r.spl?
p.?
Both (homozygous)
-
likely pathogenic
g.59819870_59824934del
g.62152637_62157701del
-
-
PIGN_000062
-
PubMed: Alessandri et al.2018
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
FRNS
Patient_2
PubMed: Alessandri 2018
-
F
no
Reunion
-
-
-
-
-
1
Philippe Campeau
+?/.
-
c.329_549+1908del
r.spl?
p.?
Both (homozygous)
-
likely pathogenic
g.59819870_59824934del
g.62152637_62157701del
-
-
PIGN_000062
The deletion coordinates might not exactly be c.329_549+1908del but is known to be present at that region and suggests the absence of exons 6 and 7
PubMed: Alessandri et al.2018
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
FRNS
Patient_3
PubMed: Alessandri 2018
-
F
no
Reunion
-
-
-
-
-
1
Philippe Campeau
+?/.
-
c.329_549+1908del
r.spl?
p.?
Both (homozygous)
-
likely pathogenic
g.59819870_59824934del
g.62152637_62157701del
-
-
PIGN_000062
The deletion coordinates might not exactly be c.329_549+1908del but is known to be present at that region and suggests the absence of exons 6 and 7
PubMed: Alessandri et al.2018
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
FRNS
Patient_4
PubMed: Alessandri 2018
-
F
no
Mayotte
-
-
-
-
-
1
Philippe Campeau
?/.
-
c.364G>C
r.(?)
p.(Glu122Gln)
Unknown
-
VUS
g.59824440C>G
g.62157207C>G
PIGN(NM_176787.4):c.364G>C (p.E122Q)
-
PIGN_000043
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.364G>C
r.(?)
p.(Glu122Gln)
Unknown
-
likely benign
g.59824440C>G
g.62157207C>G
PIGN(NM_176787.4):c.364G>C (p.E122Q)
-
PIGN_000043
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.364G>C
r.(?)
p.(Glu122Gln)
Parent #1
-
VUS
g.59824440C>G
g.62157207C>G
-
-
PIGN_000043
4 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs200756305
Germline
-
4/2789 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
4
Mohammed Faruq
+?/.
-
c.406T>G
r.(?)
p.(Trp136Gly)
Maternal (confirmed)
-
likely pathogenic
g.59824398A>C
g.62157165A>C
-
-
PIGN_000052
-
PubMed: Couser et al. 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
peripheral blood
NextGen Exome Sequencing (NCGENES)
MCAHS1;GPIBD3
-
PubMed: Couser 2015
-
M
no
-
Mexican American
-
-
-
-
1
Philippe Campeau
+?/.
-
c.421dup
r.(?)
p.(Ile141Asnfs*10)
Both (homozygous)
-
likely pathogenic
g.59824383dup
g.62157150dup
-
-
PIGN_000063
-
PubMed: Alessandri et al.2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
WES
FRNS
Patient_5
PubMed: Alessandri 2018
-
F
yes
-
North African
00y00m02d
-
-
-
2
Philippe Campeau
+?/.
-
c.421dup
r.(?)
p.(Ile141Asnfs*10)
Both (homozygous)
-
likely pathogenic
g.59824383dup
g.62157150dup
-
-
PIGN_000063
-
PubMed: Alessandri et al.2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
Sanger sequencing
FRNS
Patient_6
PubMed: Alessandri 2018
-
M
yes
-
North African
-
-
-
-
1
Philippe Campeau
-?/.
-
c.426G>C
r.(?)
p.(Leu142=)
Unknown
-
likely benign
g.59824378C>G
-
PIGN(NM_176787.4):c.426G>C (p.L142=)
-
PIGN_000101
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.484A>G
r.(?)
p.(Lys162Glu)
Unknown
-
benign
g.59821843T>C
g.62154610T>C
PIGN(NM_176787.5):c.484A>G (p.K162E)
-
PIGN_000042
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.528G>A
r.(?)
p.(Thr176=)
Unknown
-
likely benign
g.59821799C>T
g.62154566C>T
PIGN(NM_176787.4):c.528G>A (p.T176=)
-
PIGN_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.531G>C
r.(?)
p.(Trp177Cys)
Unknown
-
VUS
g.59821796C>G
-
PIGN(NM_176787.5):c.531G>C (p.W177C)
-
PIGN_000090
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.548_549+6del
r.spl?
p.?
Unknown
-
pathogenic
g.59821772_59821779del
g.62154539_62154546del
-
-
PIGN_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.548_549+6del
r.spl?
p.?
Maternal (confirmed)
-
likely pathogenic
g.59821772_59821779del
g.62154539_62154546del
-
-
PIGN_000051
-
PubMed: Fleming et al. 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
-
Patient_4
PubMed: Fleming 2016
-
F
-
-
white - African American
-
-
-
-
1
Philippe Campeau
+?/.
-
c.600_603del
r.(?)
p.(Asn200Lysfs*4)
Unknown
-
likely pathogenic
g.59815520_59815523del
-
PIGN(NM_176787.4):c.600_603delTGAA (p.N200Kfs*4)
-
PIGN_000100
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.614T>C
r.(?)
p.(Val205Ala)
Unknown
-
VUS
g.59815507A>G
g.62148274A>G
PIGN(NM_176787.4):c.614T>C (p.V205A)
-
PIGN_000078
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.674+1G>A
r.spl?
p.?
Unknown
-
pathogenic
g.59815446C>T
g.62148213C>T
PIGN(NM_176787.5):c.674+1G>A
-
PIGN_000040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.675-4A>G
r.spl?
p.?
Unknown
-
likely benign
g.59814338T>C
-
PIGN(NM_176787.5):c.675-4A>G
-
PIGN_000116
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.675-1G>C
r.spl
p.?
Parent #2
-
pathogenic (recessive)
g.59814335C>G
g.62147102C>G
-
-
PIGN_000084
-
PubMed: Zhu 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
trio WES
?
Trio7
PubMed: Zhu 2015
-
F
-
Israel
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.685C>G
r.(?)
p.(His229Asp)
Unknown
-
benign
g.59814324G>C
g.62147091G>C
PIGN(NM_176787.4):c.685C>G (p.H229D), PIGN(NM_176787.5):c.685C>G (p.H229D)
-
PIGN_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.685C>G
r.(?)
p.(His229Asp)
Unknown
-
benign
g.59814324G>C
g.62147091G>C
PIGN(NM_176787.4):c.685C>G (p.H229D), PIGN(NM_176787.5):c.685C>G (p.H229D)
-
PIGN_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
9
c.694A>T
r.0?
p.(Lys232*)
Both (homozygous)
-
likely pathogenic
g.59814315T>A
g.62147082T>A
-
-
PIGN_000005
not in dbSNP, 1000 genomes, ExAC and 2000 internal controls
PubMed: McInerney-Leo 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ
amniocytes
-
FRNS
-
PubMed: McInerney-Leo 2016
-
?
?
Iraq
-
-
-
-
-
1
Aideen McInerney-Leo
+?/.
-
c.694A>T
r.(?)
p.(Lys232*)
Maternal (confirmed)
-
likely pathogenic
g.59814315T>A
g.62147082T>A
-
-
PIGN_000005
-
PubMed: Pagnamenta et al. 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
WES
epilepsy
259633
PubMed: Pagnamenta 2017
-
F
no
-
White British white
-
-
-
-
1
Philippe Campeau
?/.
-
c.709G>A
r.(?)
p.(Gly237Arg)
Maternal (confirmed)
-
VUS
g.59814300C>T
g.62147067C>T
-
-
PIGN_000055
-
PubMed: Fleming et al. 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
-
Patient_3
PubMed: Fleming 2016
-
F
-
-
African American
-
-
-
-
1
Philippe Campeau
?/.
-
c.736A>T
r.(?)
p.(Asn246Tyr)
Unknown
-
VUS
g.59814273T>A
-
PIGN(NM_176787.4):c.736A>T (p.N246Y)
-
PIGN_000099
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.741C>T
r.(?)
p.(His247=)
Unknown
-
benign
g.59814268G>A
g.62147035G>A
PIGN(NM_176787.4):c.741C>T (p.H247=), PIGN(NM_176787.5):c.741C>T (p.H247=)
-
PIGN_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.741C>T
r.(?)
p.(His247=)
Unknown
-
benign
g.59814268G>A
g.62147035G>A
PIGN(NM_176787.4):c.741C>T (p.H247=), PIGN(NM_176787.5):c.741C>T (p.H247=)
-
PIGN_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.754G>A
r.(?)
p.(Asp252Asn)
Unknown
-
VUS
g.59814255C>T
g.62147022C>T
PIGN(NM_176787.4):c.754G>A (p.D252N)
-
PIGN_000077
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.755A>T
r.(?)
p.(Asp252Val)
Both (homozygous)
-
likely pathogenic
g.59814254T>A
g.62147021T>A
-
-
PIGN_000057
-
PubMed: Khayat et al. 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
MCAHS1;GPIBD3
-
PubMed: Khayat 2016
-
F
yes
-
Israeli–Arab
-
-
-
-
1
Philippe Campeau
+?/.
-
c.790G>A
r.(?)
p.(Gly264Arg)
Paternal (confirmed)
-
likely pathogenic
g.59814219C>T
g.62146986C>T
-
-
PIGN_000058
-
PubMed: Jezela-Stanek et al. 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
peripheral blood
WES
-
Patient_2
PubMed: Jezela-Stanek 2016
-
F
no
-
-
-
-
-
-
1
Philippe Campeau
+/.
-
c.790G>A
r.(?)
p.(Gly264Arg)
Paternal (confirmed)
-
pathogenic
g.59814219C>T
g.62146986C>T
-
-
PIGN_000058
-
PubMed: Pronicka 2016
-
-
Germline
-
1/113 cases
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
Pat6
PubMed: Pronicka 2016
-
F
-
Poland
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.805+119A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.59814085T>C
g.62146852T>C
PIGN(NM_176787.4):c.805+119A>G
-
PIGN_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
9
c.808T>C
r.(?)
p.(Ser270Pro)
Paternal (confirmed)
-
pathogenic
g.59813256A>G
g.62146023A>G
-
-
PIGN_000002
expression of GPI-anchored proteins such as CD16 and CD24 on granulocytes was significantly decreased, and expression of CD59 in PIGN-knockout human embryonic kidney 293 cells was hardly restored suggesting complete loss of PIGN activity
PubMed: Ohba 2014
,
OMIM:var0002
-
rs587777186
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
-
-
MCAHS1;GPIBD3
-
PubMed: Ohba 2014
2-generation family, 2 affected sibs (borther, sister) and unaffected heterozygous carrier parents
-
no
Japan
-
<0d
-
-
-
2
Philippe Campeau
+?/.
-
c.808T>C
r.(?)
p.(Ser270Pro)
Paternal (confirmed)
-
likely pathogenic
g.59813256A>G
g.62146023A>G
-
-
PIGN_000002
-
PubMed: Nakagawa et al. 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
Target exome sequencing of the 26 genes related to GPI-APs
epilepsy, ID
-
PubMed: Nakagawa et al.2015
-
M
no
Japan
-
-
-
-
-
1
Philippe Campeau
+/.
-
c.824A>C
r.(?)
p.(His275Pro)
Both (homozygous)
-
pathogenic
g.59813240T>G
g.62146007T>G
-
-
PIGN_000068
Homozygous, Autosomal recessive
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS Illumina
MCAHS1;GPIBD3
Fam1_Case1
PubMed: Thuresson et al. 2018
-
F
yes
-
-
-
-
-
-
1
Philippe Campeau
+/+
-
c.824A>C
r.(?)
p.(His275Pro)
Both (homozygous)
-
pathogenic
g.59813240T>G
g.62146007T>G
-
-
PIGN_000068
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS Illumina
MCAHS1;GPIBD3
Fam1, Case2
PubMed: Thuresson et al., 2018
-
M
yes
-
-
-
-
-
-
1
Philippe Campeau
+?/.
-
c.923-6T>G
r.[923_963del,923_1023del,922_923ins[923-26_923-7;uuucag]]
p.[Glu308Glyfs*2,Glu308Glyfs*9,Glu308Aspfs*19]
Both (homozygous)
-
pathogenic (recessive)
g.59810585A>C
g.62143352A>C
-
-
PIGN_000103
exon skipping, cryptic splice acceptor
PubMed: Bournazos 2022
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG-RNA
whole blood, fibroblasts, liver
trio WES
?
A040
PubMed: Bournazos 2022
family, affected 2 affected fetuses)
-
-
Australia
-
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.932T>G
r.(?)
p.(Leu311Trp)
Unknown
-
likely pathogenic
g.59810570A>C
g.62143337A>C
-
-
PIGN_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.932T>G
r.(?)
p.(Leu311Trp)
Maternal (confirmed)
-
likely pathogenic
g.59810570A>C
g.62143337A>C
-
-
PIGN_000050
-
PubMed: Jezela-Stanek et al. 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
peripheral blood
WES
-
Patient_2
PubMed: Jezela-Stanek 2016
-
F
no
-
-
-
-
-
-
1
Philippe Campeau
+?/.
-
c.932T>G
r.(?)
p.(Leu311Trp)
Paternal (confirmed)
-
likely pathogenic
g.59810570A>C
g.62143337A>C
-
-
PIGN_000050
-
PubMed: Pagnamenta et al. 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
WES
epilepsy
259633
PubMed: Pagnamenta 2017
-
F
no
-
White British white
-
-
-
-
1
Philippe Campeau
+/.
-
c.932T>G
r.(?)
p.(Leu311Trp)
Maternal (confirmed)
-
pathogenic
g.59810570A>C
g.62143337A>C
-
-
PIGN_000050
-
PubMed: Pronicka 2016
-
-
Germline
-
1/113 cases
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
Pat6
PubMed: Pronicka 2016
-
F
-
Poland
-
-
-
-
-
1
Johan den Dunnen
+/.
10
c.963G>A
r.[923_963del, 963_964ins963+1_963+53]
p.[Glu308Glyfs*2,Ala322Valfs*24]
Maternal (confirmed)
-
pathogenic
g.59810539C>T
g.62143306C>T
-
-
PIGN_000003
expression of GPI-anchored proteins such as CD16 and CD24 on granulocytes was significantly decreased, and expression of CD59 in PIGN-knockout human embryonic kidney 293 cells was hardly restored suggesting complete loss of PIGN activity
PubMed: Ohba 2014
,
OMIM:var0003
-
rs587777187
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
-
-
MCAHS1;GPIBD3
-
PubMed: Ohba 2014
2-generation family, 2 affected sibs (borther, sister) and unaffected heterozygous carrier parents
-
no
Japan
-
<0d
-
-
-
2
Philippe Campeau
?/.
-
c.963G>A
r.(=)
p.(=)
Paternal (confirmed)
-
VUS
g.59810539C>T
g.62143306C>T
-
-
PIGN_000003
Compound heterozygous variant in PIGN. Known splice site mutation (c.963G>A) was inherited from father.
-
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
Peripheral blood
-
MCAHS1;GPIBD3
Patient
PubMed: Xu et al., 2017
-
M
-
China
Chinese
>00y04m
-
-
-
1
Philippe Campeau
?/.
-
c.968A>T
r.(?)
p.(Asp323Val)
Unknown
-
VUS
g.59807708T>A
-
PIGN(NM_176787.4):c.968A>T (p.(Asp323Val))
-
PIGN_000111
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.996T>G
r.(?)
p.(Ile332Met)
Both (homozygous)
-
pathogenic
g.59807680A>C
g.62140447A>C
NM_176787: c.T996G; p.I332M
-
PIGN_000009
-
PubMed: Karaca 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
WES
?
26539891-FamBAB5703
PubMed: Karaca 2015
-
-
-
-
-
-
-
family structure in paper
-
1
Johan den Dunnen
?/.
12
c.1004C>T
r.(?)
p.(Pro335Leu)
Paternal (confirmed)
ACMG
VUS
g.59807672G>A
g.62140439G>A
-
-
PIGN_000108
-
-
ClinVar-472204
rs753868318
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
peripheral blood
CES
?
-
-
-
F
-
- (not applicable)
white
-
-
-
-
1
Marketa Wayhelova
-/.
-
c.1117-1A>G
r.spl?
p.?
Unknown
-
benign
g.59805532T>C
g.62138299=
PIGN(NM_176787.4):c.1117-1A>G, PIGN(NM_176787.5):c.1117-1A>G
-
PIGN_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1117-1A>G
r.spl?
p.?
Unknown
-
likely benign
g.59805532T>C
g.62138299=
PIGN(NM_176787.4):c.1117-1A>G, PIGN(NM_176787.5):c.1117-1A>G
-
PIGN_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1261T>C
r.(?)
p.(Cys421Arg)
Parent #1
-
pathogenic (recessive)
g.59780540A>G
g.62113307A>G
-
-
PIGN_000085
-
PubMed: Zhu 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
trio WES
?
Trio7
PubMed: Zhu 2015
-
F
-
Israel
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.1333G>T
r.(?)
p.(Val445Phe)
Unknown
-
likely benign
g.59780468C>A
g.62113235C>A
PIGN(NM_012327.5):c.1333G>T (p.(Val445Phe))
-
PIGN_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.1377T>C
r.(?)
p.(Ser459=)
Unknown
-
benign
g.59780424A>G
g.62113191A>G
PIGN(NM_176787.4):c.1377T>C (p.S459=)
-
PIGN_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.1408A>T
r.(?)
p.(Ile470Leu)
Unknown
-
benign
g.59780393T>A
g.62113160T>A
PIGN(NM_176787.4):c.1408A>T (p.I470L)
-
PIGN_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1434G>A
r.(?)
p.(Lys478=)
Unknown
-
VUS
g.59780367C>T
g.62113134C>T
PIGN(NM_012327.5):c.1434G>A (p.(=)), PIGN(NM_176787.4):c.1434G>A (p.K478=), PIGN(NM_176787.5):c.1434G>A (p.K478=)
-
PIGN_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.1434G>A
r.(?)
p.(Lys478=)
Unknown
-
likely pathogenic
g.59780367C>T
g.62113134C>T
PIGN(NM_012327.5):c.1434G>A (p.(=)), PIGN(NM_176787.4):c.1434G>A (p.K478=), PIGN(NM_176787.5):c.1434G>A (p.K478=)
-
PIGN_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.1434G>A
r.(?)
p.(Lys478=)
Unknown
-
likely pathogenic
g.59780367C>T
g.62113134C>T
PIGN(NM_012327.5):c.1434G>A (p.(=)), PIGN(NM_176787.4):c.1434G>A (p.K478=), PIGN(NM_176787.5):c.1434G>A (p.K478=)
-
PIGN_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.1434+5G>A
r.spl?
p.?
Both (homozygous)
-
likely pathogenic
g.59780362C>T
g.62113129C>T
-
-
PIGN_000008
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
F
-
(Germany)
-
-
-
-
-
1
IMGAG
+?/.
-
c.1434+5G>A
r.spl?
p.?
Paternal (confirmed)
-
likely pathogenic
g.59780362C>T
g.62113129C>T
-
-
PIGN_000008
-
PubMed: Fleming et al. 2016
-
-
Germline
-
-
-
-
-
DNA
?
-
-
-
Patient_1
PubMed: Fleming 2016
-
F
no
-
white
-
-
-
-
2
Philippe Campeau
+?/.
-
c.1434+5G>A
r.spl?
p.?
Paternal (confirmed)
-
likely pathogenic
g.59780362C>T
g.62113129C>T
-
-
PIGN_000008
-
PubMed: Fleming et al. 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
-
Patient_2
PubMed: Fleming 2016
-
F
no
-
white
-
-
-
-
1
Philippe Campeau
+?/.
-
c.1434+5G>A
r.spl?
p.?
Unknown
-
likely pathogenic
g.59780362C>T
-
-
-
PIGN_000008
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1435-19G>A
r.(=)
p.(=)
Unknown
-
likely benign
g.59777225C>T
-
PIGN(NM_176787.4):c.1435-19G>A
-
PIGN_000095
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1494dup
r.(?)
p.(Leu499Serfs*58)
Unknown
-
pathogenic
g.59777152dup
-
PIGN(NM_176787.5):c.1494dup (p.(Leu499Serfs*58))
-
PIGN_000115
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
16i
c.1574+1G>A
r.1435_1574del
p.Lys479Ilefs*31
Both (homozygous)
-
pathogenic
g.59777066C>T
g.62109833C>T
-
-
PIGN_000004
-
PubMed: Brady 2014
-
-
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
-
-
MCAHS1;GPIBD3
-
PubMed: Brady 2014
affected fetus, pregnancy terminated 16w gestation; unaffected heterozygous carrier parents
-
yes
(Belgium)
Africa, north
<00y00m00d
-
-
-
1
Philippe Campeau
+/.
18
c.1674+1G>C
r.spl
p.?
Maternal (confirmed)
-
pathogenic
g.59774218C>G
g.62106985C>G
-
-
PIGN_000006
-
PubMed: McInerney-Leo 2016
-
-
Germline
yes
0.000083 in ExAC
-
-
-
DNA
SEQ
amniocytes
-
FRNS
-
PubMed: McInerney-Leo 2016
-
?
no
-
Scandinavian
-
-
-
-
1
Aideen McInerney-Leo
+?/.
-
c.1674+1G>C
r.spl
p.?
Maternal (confirmed)
ACMG
pathogenic
g.59774218C>G
g.62106985C>G
-
-
PIGN_000006
-
-
ClinVar-264640
rs376355678
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
peripheral blood
CES
?
-
-
-
F
-
- (not applicable)
white
-
-
-
-
1
Marketa Wayhelova
-?/.
-
c.1675-8A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.59774122T>C
-
PIGN(NM_176787.4):c.1675-8A>G
-
PIGN_000094
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1694G>A
r.(?)
p.(Arg565His)
Unknown
-
VUS
g.59774095C>T
-
-
-
PIGN_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1694G>T
r.(?)
p.(Arg565Leu)
Maternal (confirmed)
-
VUS
g.59774095C>A
-
-
-
PIGN_000097
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
ID
188P
-
-
F
no
Spain
-
-
-
-
-
1
Alejandro Brea-Fernández
?/.
-
c.1708G>A
r.(?)
p.(Ala570Thr)
Unknown
-
VUS
g.59774081C>T
g.62106848C>T
PIGN(NM_176787.5):c.1708G>A (p.A570T)
-
PIGN_000074
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1719T>C
r.(?)
p.(Thr573=)
Unknown
-
likely benign
g.59774070A>G
-
PIGN(NM_176787.4):c.1719T>C (p.T573=)
-
PIGN_000089
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
19
c.1735C>T
r.(?)
p.(Pro579Ser)
Paternal (confirmed)
-
pathogenic (recessive)
g.59774054G>A
g.62106821G>A
-
-
PIGN_000065
-
PubMed: Martinez 2017
,
Journal: Martinez 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
1256 gene panel
ID
27620904-Pat27
PubMed: Martinez 2017
,
Journal: Martinez 2017
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.1752G>A
r.(?)
p.(Leu584=)
Unknown
-
benign
g.59774037C>T
g.62106804C>T
PIGN(NM_176787.4):c.1752G>A (p.L584=)
-
PIGN_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
21
c.1966C>T
r.0?
p.(Gln656*)
Paternal (confirmed)
-
likely pathogenic
g.59770029G>A
g.62102796G>A
-
-
PIGN_000007
not in dbSNP, 1000 genomes, ExAC or 2000 internal controls
PubMed: McInerney-Leo 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ
amniocytes
-
FRNS
-
PubMed: McInerney-Leo 2016
-
?
no
-
Scandinavian
-
-
-
-
1
Aideen McInerney-Leo
?/.
-
c.1985T>C
r.(?)
p.(Leu662Pro)
Unknown
-
VUS
g.59768400A>G
g.62101167A>G
-
-
PIGN_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.2022A>G
r.(?)
p.(Leu674=)
Unknown
-
likely benign
g.59768363T>C
g.62101130T>C
PIGN(NM_176787.4):c.2022A>G (p.L674=)
-
PIGN_000073
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.2033A>C
r.(?)
p.(Gln678Pro)
Unknown
-
likely benign
g.59768352T>G
g.62101119T>G
PIGN(NM_012327.5):c.2033A>C (p.(Gln678Pro))
-
PIGN_000081
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.2077+63T>G
r.(=)
p.(=)
Unknown
-
likely benign
g.59768245A>C
g.62101012A>C
PIGN(NM_176787.4):c.2077+63T>G
-
PIGN_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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