Global Variome shared LOVD
TPMT (thiopurine S-methyltransferase)
LOVD v.3.0 Build 30b [
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Curator:
Simran Maggo
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TPMT reference haplotypes in this database
.
Download the current
TPMT reference haplotype list (ver.2015-05-19)
.
The variants shown are described using the NM_000367.2 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.
Haplotype
: haplotype on which variant was found
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
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
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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395 entries on 4 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
Haplotype
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
-?/.
_1
c.-235_-149=
TPMT*V6
r.(=)
p.(=)
Unknown
-
likely benign
g.18155368_18155454=
g.18155137_18155223=
6 repeat units, c.[-235_-218[2];-199_-183[3]]
-
TPMT_000000
unit structure 2-3-1, 305 bp fragment, identical to ref.sequence
PubMed: Spire-Vayron de la Moureyre 1999
-
-
Germline
-
0.08
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Spire-Vayron de la Moureyre 1999
108 individuals tested
-
-
France
-
-
-
-
-
108
Johan den Dunnen
?/.
_1
c.-235_-149=
TPMT*V6
r.(=)
p.(=)
Unknown
-
VUS
g.18155368_18155454=
g.18155137_18155223=
6 repeat units
-
TPMT_000000
larger repeats have small negative effect on promoter activity
PubMed: Yan 2000
-
-
Germline
-
25/558 chromosomes
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Yan 2000
558 control chromosomes
-
-
United States
-
-
-
-
-
558
Johan den Dunnen
-?/.
_1
c.[-235_-218[5];-181_-149del]
TPMT*V7
r.(=)
p.(=)
Unknown
-
likely benign
g.[18155437_18155452[5];18155368_18155384del]
-
7 repeat units, c.[-235_-218[5];-199_-183[1]]
-
TPMT_000004
unit structure 5-1-1, 305 bp fragment
PubMed: Spire-Vayron de la Moureyre 1999
-
-
Germline
-
0.04
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Spire-Vayron de la Moureyre 1999
108 individuals tested
-
-
France
-
-
-
-
-
108
Johan den Dunnen
+?/.
_1
c.[-235_-218[5];-181_-149del]
TPMT*V7
r.(=)
p.(=)
Unknown
-
likely benign (!)
g.[18155437_18155452[5];18155368_18155384del]
-
7 repeat units
-
TPMT_000004
larger repeats have small negative effect on promoter activity
PubMed: Yan 2000
-
-
Germline
-
25/558 chromosomes
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Yan 2000
558 control chromosomes
-
-
United States
-
-
-
-
-
558
Johan den Dunnen
-?/.
_1
c.[-235_-218[6];-181_-149del]
TPMT*V8
r.(=)
p.(=)
Unknown
-
likely benign
g.[18155437_18155452[6];18155368_18155384del]
-
8 repeat units, c.[-235_-218[6];-199_-183[1]]
-
TPMT_000005
unit structure 6-1-1, 323 bp fragment
PubMed: Spire-Vayron de la Moureyre 1999
-
-
Germline
-
0.02
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Spire-Vayron de la Moureyre 1999
108 individuals tested
-
-
France
-
-
-
-
-
108
Johan den Dunnen
+?/.
_1
c.[-235_-218[6];-181_-149del]
TPMT*V8
r.(=)
p.(=)
Unknown
-
likely benign (!)
g.[18155437_18155452[6];18155368_18155384del]
-
8 repeat units
-
TPMT_000005
larger repeats have small negative effect on promoter activity
PubMed: Yan 2000
-
-
Germline
-
1/558 chromosomes
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Yan 2000
558 control chromosomes
-
-
United States
-
-
-
-
-
558
Johan den Dunnen
-?/.
_1
c.-182_-149del
TPMT*V4
r.(=)
p.(=)
Unknown
-
likely benign
g.18155385_18155418del
g.18155154_18155187del
4 repeat units, c.[-235_-218[2];-199_-183[1]]
-
TPMT_000002
unit structure 2-1-1, 251 bp fragment
PubMed: Spire-Vayron de la Moureyre 1999
-
-
Germline
-
0.44
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Spire-Vayron de la Moureyre 1999
108 individuals tested
-
-
France
-
-
-
-
-
108
Johan den Dunnen
-?/.
_1
c.-182_-149del
TPMT*V4
r.(=)
p.(=)
Unknown
-
likely benign
g.18155385_18155418del
g.18155154_18155187del
4 repeat units
-
TPMT_000002
-
PubMed: Yan 2000
-
-
Germline
-
303/558 chromosomes
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Yan 2000
558 control chromosomes
-
-
United States
-
-
-
-
-
558
Johan den Dunnen
?/.
_1
c.-178C>T
TPMT*1A
r.(=)
p.(=)
Unknown
-
VUS
g.18155397G>A
g.18155166G>A
-
-
TPMT_000012
-
PubMed: de la Moureyre 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
Healthy/Control
-
-
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
-?/.
_1
c.-178C>T
TPMT*1A
r.(=)
p.(=)
Parent #1
-
likely benign
g.18155397G>A
g.18155166G>A
-
-
TPMT_000012
-
PubMed: Colombel 2000
-
-
Germline
-
1/41 individuals
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
?/.
_1
c.-178C>T
TPMT*1A
r.(=)
p.(=)
Unknown
-
VUS
g.18155397G>A
g.18155166G>A
-
-
TPMT_000012
reference haplotype TPMT*1A
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
_1
c.-165_-149del
TPMT*V5
r.(=)
p.(=)
Unknown
-
likely benign
g.18155368_18155384del
g.18155137_18155153del
5 repeat units, c.[-235_-218[2];-199_-183[2]]
-
TPMT_000003
unit structure 2-2-1, 268 bp fragment Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message.
PubMed: Spire-Vayron de la Moureyre 1999
-
-
Germline
-
0,43
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Spire-Vayron de la Moureyre 1999
108 individuals tested
-
-
France
-
-
-
-
-
108
Johan den Dunnen
-?/.
_1
c.-165_-149del
TPMT*V5
r.(=)
p.(=)
Unknown
-
likely benign
g.18155368_18155384del
g.18155137_18155153del
5 repeat units
-
TPMT_000003
Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message.
PubMed: Yan 2000
-
-
Germline
-
201/558 chromosomes
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Yan 2000
558 control chromosomes
-
-
United States
-
-
-
-
-
558
Johan den Dunnen
-/.
_1
c.-165_-149del
-
r.(?)
p.(=)
Unknown
-
benign
g.18155368_18155384del
g.18155137_18155153del
-
-
TPMT_000003
Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message.
PubMed: Skrzypczak-Zielinska 2013
-
-
Germline
-
292/548
-
-
-
DNA
MCA, SEQ
-
-
?
-
-
-
-
?
Poland
-
-
-
-
-
292
Johan den Dunnen
-?/.
1i
c.-44-124G>A
-
r.(=)
p.(=)
Unknown
-
likely benign
g.18149526C>T
g.18149295C>T
rs3930696
-
TPMT_000006
-
PubMed: Roberts 2014
-
rs3930696
Unknown
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
THPM1
-
PubMed: Roberts 2014
2-generation family, father/son
M
?
New Zealand
-
-
-
-
-
2
Johan den Dunnen
?/.
1
c.-30T>A
-
r.(?)
p.(=)
Parent #1
-
VUS
g.18149388A>T
g.18149157A>T
-
-
TPMT_000013
-
PubMed: Otterness 1997
-
-
Germline
-
1/21 samples
-
-
-
DNA
SEQ
-
-
THPM1
-
-
from 21 controls analysed
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
?/.
_1
c.?
TPMT*V3
r.(=)
p.(=)
Unknown
-
VUS
g.18155368_18155454?
-
3 repeat units
-
TPMT_000000
-
PubMed: Yan 2000
-
-
Germline
-
1/558 chromosomes
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Yan 2000
558 control chromosomes
-
-
United States
-
-
-
-
-
558
Johan den Dunnen
+?/.
_1
c.?
TPMT*V9
r.(=)
p.(=)
Unknown
-
likely benign (!)
g.18155368_18155454?
-
9 repeat units
-
TPMT_000000
larger repeats have small negative effect on promoter activity
PubMed: Yan 2000
-
-
Germline
-
2/558 chromosomes
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
-
PubMed: Yan 2000
558 control chromosomes
-
-
United States
-
-
-
-
-
558
Johan den Dunnen
+/.
2
c.1A>G
TPMT*14
r.(?)
p.0?
Unknown
-
NA
g.18149358T>C
g.18149127T>C
Met1Val
-
TPMT_000140
expression cloning COS7-cells, reduced protein expression, reduced activity in 6-TG S-methylation
PubMed: Ujiie 2008
-
rs9333569
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.1A>G
TPMT*14
r.(?)
p.0?
Paternal (confirmed)
-
benign (!)
g.18149358T>C
g.18149127T>C
Met1Val
-
TPMT_000140
-
PubMed: Lindqvist 2004
-
rs9333569
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
2-generation family, 1 affected, carrier parents reduced TPMT activity
-
-
Sweden
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.1A>G
TPMT*14
r.(?)
p.0?
Unknown
-
benign (!)
g.18149358T>C
g.18149127T>C
-
-
TPMT_000140
reference haplotype TPMT*14
-
-
rs9333569
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.2T>C
TPMT*29
r.2u>c
p.0?
Unknown
-
benign (!)
g.18149357A>G
g.18149126A>G
Met1Thr
-
TPMT_000290
-
PubMed: Lee 2012
-
rs267607275
Unknown
-
-
-
-
-
DNA, RNA
PCR, RT-PCR, SEQ
-
-
THPM1
-
PubMed: Lee 2012
-
M
no
China
-
-
-
-
-
1
Johan den Dunnen
?/.
1
c.2T>C
TPMT*29
r.(?)
p.0?
Unknown
-
VUS
g.18149357A>G
g.18149126A>G
-
-
TPMT_000290
reference haplotype TPMT*29
-
-
rs267607275
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
2
c.30T>A
-
r.(?)
p.(=)
Unknown
-
likely benign
g.18149329A>T
g.18149098A>T
Ile10Ile
-
TPMT_000286
-
PubMed: Skrzypczak-Zielinska 2013
-
rs200780293
Unknown
-
1/548
-
-
-
DNA
MCA, SEQ
-
-
?
-
-
-
-
?
Poland
-
-
-
-
-
1
Johan den Dunnen
+?/.
2
c.83A>T
TPMT*13
r.(?)
p.Glu28Val
Unknown
-
NA
g.18149276T>A
g.18149045T>A
-
-
TPMT_000130
expression cloning COS7-cells, reduced activity in 6-TG S-methylation
PubMed: Ujiie 2008
-
rs72552742
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.83A>T
TPMT*13
r.(?)
p.(Glu28Val)
Parent #1
-
benign (!)
g.18149276T>A
g.18149045T>A
-
-
TPMT_000130
57% TPMT clearance
PubMed: Hamdan-Khalil 2003
-
rs72552742
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.83A>T
TPMT*13
r.(?)
p.(Glu28Val)
Unknown
-
benign (!)
g.18149276T>A
g.18149045T>A
-
-
TPMT_000130
reference haplotype TPMT*13
-
-
rs72552742
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.95dup
TPMT*42
r.(?)
p.(Trp33Valfs*26)
Unknown
-
benign (!)
g.18149264dup
g.18149033dup
95_96insA
-
TPMT_000378
reference haplotype TPMT*42
-
-
rs759836180
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.106G>A
TPMT*30
r.(?)
p.Gly36Ser
Unknown
-
NA
g.18149253C>T
g.18149022C>T
-
-
TPMT_000300
expression cloning COS7-cells, reduced activity in 6-TG S-methylation; haplotype reported as TPMT*24
PubMed: Ujiie 2008
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.106G>A
TPMT*30
r.(?)
p.(Gly36Ser)
Parent #1
-
VUS
g.18149253C>T
g.18149022C>T
-
-
TPMT_000300
-
PubMed: Sasaki 2006
-
-
Germline
-
1/192 ind.
-
-
-
DNA
DHPLC, SEQ
-
-
Healthy/Control
-
-
-
-
-
Japan
-
-
-
-
-
1
Johan den Dunnen
?/.
2
c.106G>A
TPMT*30
r.(?)
p.(Gly36Ser)
Unknown
-
VUS
g.18149253C>T
g.18149022C>T
-
-
TPMT_000300
reference haplotype TPMT*30; old TPMT*20/*24
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.124C>G
TPMT*17
r.(?)
p.Gln42Glu
Unknown
-
NA
g.18149235G>C
g.18149004G>C
-
-
TPMT_000170
expression cloning COS7-cells, reduced activity in 6-TG S-methylation
PubMed: Ujiie 2008
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.124C>G
TPMT*17
r.(?)
p.(Gln42Glu)
Parent #1
-
benign (!)
g.18149235G>C
g.18149004G>C
-
-
TPMT_000170
-
PubMed: Schaeffeler 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.124C>G
TPMT*17
r.(?)
p.(Gln42Glu)
Unknown
-
benign (!)
g.18149235G>C
g.18149004G>C
-
-
TPMT_000170
reference haplotype TPMT*17
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
2i
c.140+114T>A
TPMT*3E
r.(?)
p.(=)
Parent #1
-
VUS
g.18149105A>T
g.18148874A>T
-
-
TPMT_000033
-
PubMed: Otterness 1997
-
rs3931660
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
from 21 controls analysed
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
2i
c.140+114T>A
TPMT*3E
r.(=)
p.(=)
Unknown
-
benign (!)
g.18149105A>T
g.18148874A>T
-
-
TPMT_000033
reference haplotype TPMT*3E
-
-
rs3931660
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
2i
c.141-101A>T
-
r.(=)
p.(=)
Unknown
-
VUS
g.18148247T>A
g.18148016T>A
-
-
TPMT_000034
-
-
-
rs12529220
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
2i
c.141-101A>T
-
r.(=)
p.(=)
Unknown
-
likely benign
g.18148247T>A
g.18148016T>A
rs12529220
-
TPMT_000034
-
PubMed: Roberts 2014
-
rs12529220
Unknown
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
THPM1
-
PubMed: Roberts 2014
2-generation family, father/son
M
?
New Zealand
-
-
-
-
-
2
Johan den Dunnen
-?/.
2i
c.141-101A>T
TPMT*3E
r.(=)
p.(=)
Unknown
-
likely benign
g.18148247T>A
g.18148016T>A
-
-
TPMT_000034
reference haplotype TPMT*3E
-
-
rs12529220
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
3
c.146T>C
TPMT*5
r.(?)
p.Leu49Ser
Unknown
-
NA
g.18148141A>G
g.18147910A>G
-
-
TPMT_000050
-
PubMed: Salavaggione 2005
-
rs72552740
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.146T>C
TPMT*5
r.(?)
p.Leu49Ser
Unknown
-
NA
g.18148141A>G
g.18147910A>G
-
-
TPMT_000050
expression cloning COS7-cells, reduced activity in 6-TG S-methylation
PubMed: Ujiie 2008
-
rs72552740
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.146T>C
TPMT*5
r.(?)
p.(Leu49Ser)
Parent #1
-
benign (!)
g.18148141A>G
g.18147910A>G
-
-
TPMT_000050
-
PubMed: Otterness 1997
-
rs72552740
Germline
-
1/29 samples
-
-
-
DNA
SEQ
-
-
THPM1
-
-
from 283 controls analysed
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
3
c.146T>C
TPMT*5
r.(?)
p.(Leu49Ser)
Unknown
-
benign (!)
g.18148141A>G
g.18147910A>G
-
-
TPMT_000050
reference haplotype TPMT*5
-
-
rs72552740
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
3
c.200T>C
TPMT*35
r.(?)
p.(Phe67Ser)
Unknown
-
VUS
g.18148087A>G
g.18147856A>G
-
-
TPMT_000350
published as TPMT*30
PubMed: Skrzypczak-Zielinska 2013
-
-
Unknown
-
1/548 chromosomes
-
-
-
DNA
MCA, SEQ
-
-
?
-
PubMed: Skrzypczak-Zielinska 2013
-
-
?
Poland
-
-
-
-
-
274
Johan den Dunnen
+?/.
3
c.200T>C
TPMT*35
r.(?)
p.(Phe67Ser)
Unknown
-
likely benign (!)
g.18148087A>G
g.18147856A>G
-
-
TPMT_000350
reference haplotype TPMT*35
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
3
c.205C>G
TPMT*21
r.(?)
p.Leu69Val
Unknown
-
NA
g.18148082G>C
g.18147851G>C
-
-
TPMT_000210
significantly reduced TPMT clearance
PubMed: Garat 2008
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.205C>G
TPMT*21
r.(?)
p.Leu69Val
Unknown
-
NA
g.18148082G>C
g.18147851G>C
-
-
TPMT_000210
expression cloning COS7-cells, no activity in 6-TG S-methylation
PubMed: Ujiie 2008
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.205C>G
TPMT*21
r.(?)
p.(Leu69Val)
Parent #1
-
benign (!)
g.18148082G>C
g.18147851G>C
-
-
TPMT_000210
-
PubMed: Schaeffeler 2006
-
rs200591577
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
3
c.205C>G
TPMT*21
r.(?)
p.(Leu69Val)
Parent #1
-
likely benign (!)
g.18148082G>C
g.18147851G>C
-
-
TPMT_000210
not in 200 control chromosomes
PubMed: Garat 2008
-
rs200591577
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
3
c.205C>G
TPMT*21
r.(?)
p.(Leu69Val)
Unknown
-
benign (!)
g.18148082G>C
g.18147851G>C
-
-
TPMT_000210
reference haplotype TPMT*21
-
-
rs200591577
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
3
c.205C>G
TPMT*21
r.(?)
p.(Leu69Val)
Parent #1
-
benign (!)
g.18148082G>C
g.18147851G>C
-
-
TPMT_000210
activity 6.8 units (mercaptopurine derived TGNs 4060 pmol at 41 mg/m-2 mercaptopurine); haplotype TPMT*1/*21
PubMed: Lennard 2013
-
rs200591577
Germline
-
1/1137 individuals
-
-
-
DNA
SEQ
-
-
THPM1
-
PubMed: Lennard 2013
-
-
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
Johan den Dunnen
+/.
3
c.211G>A
TPMT*18
r.(?)
p.Gly71Arg
Unknown
-
NA
g.18148076C>T
g.18147845C>T
-
-
TPMT_000180
expression cloning COS7-cells, slightly reuced protein expression, no activity in 6-TG S-methylation
PubMed: Ujiie 2008
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.211G>A
TPMT*18
r.(?)
p.(Gly71Arg)
Parent #1
-
benign (!)
g.18148076C>T
g.18147845C>T
-
-
TPMT_000180
-
PubMed: Schaeffeler 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
3
c.211G>A
TPMT*18
r.(?)
p.(Gly71Arg)
Parent #2
-
benign (!)
g.18148076C>T
g.18147845C>T
-
-
TPMT_000180
-
PubMed: Schaeffeler 2004
-
-
Germline
-
2/1214 ind.
-
-
-
DNA
SEQ
-
-
THPM1
-
-
-
-
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+/.
3
c.211G>A
TPMT*18
r.(?)
p.(Gly71Arg)
Unknown
-
benign (!)
g.18148076C>T
g.18147845C>T
-
-
TPMT_000180
reference haplotype TPMT*18
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.218C>T
TPMT*39
r.(?)
p.(Ala73Val)
Unknown
-
benign (!)
g.18148069G>A
g.18147838G>A
-
-
TPMT_000375
reference haplotype TPMT*39
-
-
rs281874771
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
3
c.219G>A
-
r.(?)
p.(=)
Unknown
-
likely benign
g.18148068C>T
g.18147837C>T
Ala73Ala
-
TPMT_000009
-
PubMed: Skrzypczak-Zielinska 2013
-
-
Unknown
-
1/548
-
-
-
DNA
MCA, SEQ
-
-
?
-
-
-
-
?
Poland
-
-
-
-
-
1
Johan den Dunnen
-/.
3i
c.233+35C>T
-
r.(?)
p.(=)
Parent #1
-
benign
g.18148019G>A
g.18147788G>A
IVS4+35T>C
-
TPMT_000016
-
PubMed: Sasaki 2006
-
rs4449636
Germline
-
94/197 ind.
-
-
-
DNA
DHPLC, SEQ
-
-
Healthy/Control
-
-
-
-
-
Japan
-
-
-
-
-
94
Johan den Dunnen
-/.
3i
c.233+35C>T
-
r.(?)
p.(=)
Parent #1
-
benign
g.18148019G>A
g.18147788G>A
IVS4+35T>C
-
TPMT_000016
-
PubMed: Sasaki 2006
-
rs4449636
Germline
-
36/197 ind.
-
-
-
DNA
DHPLC, SEQ
-
-
Healthy/Control
-
-
-
-
-
Japan
-
-
-
-
-
36
Johan den Dunnen
?/.
3i
c.233+35C>T
-
r.(?)
p.(=)
Parent #1
-
VUS
g.18148019G>A
g.18147788G>A
IVS4+35T>C
-
TPMT_000016
-
PubMed: Otterness 1997
-
rs4449636
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
from 21 controls analysed
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
-/.
3i
c.233+35C>T
-
r.(?)
p.(=)
Parent #2
-
benign
g.18148019G>A
g.18147788G>A
IVS4+35T>C
-
TPMT_000016
-
PubMed: Sasaki 2006
-
rs4449636
Germline
-
36/197 ind.
-
-
-
DNA
DHPLC, SEQ
-
-
Healthy/Control
-
-
-
-
-
Japan
-
-
-
-
-
36
Johan den Dunnen
+?/.
3i
c.233+35C>T
-
r.(=)
p.(=)
Unknown
-
likely benign (!)
g.18148019G>A
g.18147788G>A
rs4449636
-
TPMT_000016
-
PubMed: Roberts 2014
-
rs4449636
Unknown
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
THPM1
-
PubMed: Roberts 2014
2-generation family, father/son
M
?
New Zealand
-
-
-
-
-
2
Johan den Dunnen
?/.
3i
c.233+96G>T
-
r.(?)
p.(=)
Parent #1
-
VUS
g.18147958C>A
g.18147727C>A
-
-
TPMT_000017
-
PubMed: Otterness 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
from 21 controls analysed
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.234G>T
TPMT*43
r.(?)
p.(Trp78Cys)
Parent #1
-
benign (!)
g.18143959C>A
g.18143728C>A
-
-
TPMT_000380
reference haplotype TPMT*43
-
ClinVar-SCV000778514
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.(?)
p.Ala80Pro
Unknown
-
NA
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
expression cloning COS7-cells, reduced protein expression, reduced activity in 6-TG S-methylation
PubMed: Ujiie 2008
-
rs1800462
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.238G>C
TPMT*2
r.238g>c
p.Ala80Pro
Maternal (confirmed)
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
100x reduced TPMT catalytic activity; unknown variant 2nd chromosome
PubMed: Krynetski 1995
,
OMIM:var0001
-
rs1800462
Germline
-
-
CviRI-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
THPM1
-
PubMed: Evans 1991
2-generation family, 1 affected
-
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.238g>c
p.Ala80Pro
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Tai 1996
-
rs1800462
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
THPM1
-
-
2-generation family, 1 affected, unaffected carrier parents
-
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.238g>c
p.Ala80Pro
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
100x reduced TPMT catalytic activity
PubMed: Krynetski 1995
,
OMIM:var0001
-
rs1800462
Germline
-
-
CviRI-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
Healthy/Control
-
-
2-generation family, unaffected carrier mother
-
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.(?)
p.(Ala80Pro)
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Collie-Duguid 1999
-
rs1800462
Germline
-
2/248 controls
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
test of 199 indidivuals
-
-
-
white
-
-
-
-
2
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.(?)
p.(Ala80Pro)
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: de la Moureyre 1998
-
rs1800462
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
THPM1
-
-
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.(?)
p.(Ala80Pro)
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Colombel 2000
-
rs1800462
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.(?)
p.(Ala80Pro)
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Colombel 2000
-
rs1800462
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.(?)
p.(Ala80Pro)
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Schaeffeler 2004
-
rs1800462
Germline
-
0.002
-
-
-
DNA
SEQ
-
-
THPM1
-
-
111 cases in 1214 individuals
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.(?)
p.(Ala80Pro)
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Ameyaw 1999
,
OMIM:var0001
-
rs1800462
Germline
-
2/199 controls
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
analysis 199 control subjects
-
-
United Kingdom (Great Britain)
white
-
-
-
-
2
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.238g>c
p.Ala80Pro
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Yates 1997
-
rs1800462
Germline
-
1/6 cases
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
THPM1
-
-
analysis 6 cases
-
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.238g>c
p.Ala80Pro
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Yates 1997
-
rs1800462
Germline
-
1/21 cases
-
-
-
DNA
SEQ
-
-
THPM1
-
-
analysis 21 ALL patients
-
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.238g>c
p.Ala80Pro
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Hon 1999
-
rs1800462
Germline
-
4/248 controls
-
-
-
DNA
SEQ
-
-
THPM1
-
-
test of 248 African-American indidivuals
-
-
United States
African American
-
-
-
-
2
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.238g>c
p.Ala80Pro
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Otterness 1997
-
rs1800462
Germline
-
1/29 samples
-
-
-
DNA
SEQ
-
-
THPM1
-
-
from 283 controls analysed
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.238g>c
p.Ala80Pro
Parent #2
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: de Beaumais 2009
-
rs1800462
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
-
-
-
Iran
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.238g>c
p.Ala80Pro
Parent #2
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Yates 1997
-
rs1800462
Germline
-
1/6 cases
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
THPM1
-
-
analysis 6 cases
-
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.238g>c
p.Ala80Pro
Parent #2
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
-
PubMed: Yates 1997
-
rs1800462
Germline
-
1/6 cases
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
THPM1
-
-
analysis 6 cases
-
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/+
4
c.238G>C
TPMT*2
r.(?)
p.(Ala80Pro)
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
reference haplotype TPMT*2; no activity
-
-
rs1800462
Germline
-
-
-
-
-
DNA
SEQ
-
-
DMBup
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.(?)
p.(Ala80Pro)
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
TPMT*1/*2
-
TPMT_000020
haplotype TPMT*1/*2
PubMed: Lennard 2013
-
-
Germline
-
4/1137 individuals
-
-
-
DNA
SEQ
-
-
THPM1
-
PubMed: Lennard 2013
-
-
-
(United Kingdom (Great Britain))
-
-
-
-
-
4
Johan den Dunnen
+/.
4
c.238G>C
TPMT*2
r.(?)
p.(Ala80Pro)
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
TPMT*2
-
TPMT_000020
haplotype TPMT*2/*3A
PubMed: Lennard 2013
-
-
Germline
-
1/1137 individuals
-
-
-
DNA
SEQ
-
-
THPM1
-
PubMed: Lennard 2013
-
-
-
United Kingdom (Great Britain)
white
-
-
-
-
1
Johan den Dunnen
+/.
4
c.238G>C
TPMT*1/*2
r.(238g>c)
p.(Ala80Pro)
Parent #1
-
benign (!)
g.18143955C>G
g.18143724C>G
-
-
TPMT_000020
intermediate metabolizer
IP3 project, submitted
-
-
Germline
-
-
-
-
-
DNA
arraySNP, PCRq
saliva
gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1
Healthy/Control
27005
IP3 project, submitted
-
M
no
Netherlands
white
-
-
-
-
1
Jesse Swen
?/.
-
c.238G>C
-
r.(?)
p.(Ala80Pro)
Unknown
-
VUS
g.18143955C>G
g.18143724C>G
TPMT(NM_000367.4):c.238G>C (p.A80P)
-
TPMT_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.244C>T
TPMT*34
r.(?)
p.(Arg82Trp)
Unknown
-
benign (!)
g.18143949G>A
g.18143718G>A
-
-
TPMT_000340
activity 8.0units (thioguanine derived TGNs 3006 pmol at 44 mg/m-2 thioguanine); haplotype TPMT*1/*34
PubMed: Lennard 2013
-
rs111901354
Germline
-
1/1137 individuals
-
-
-
DNA
SEQ
-
-
THPM1
-
PubMed: Lennard 2013
-
-
?
(United Kingdom (Great Britain))
-
-
-
-
-
1
Johan den Dunnen
+?/.
4
c.244C>T
TPMT*34
r.(?)
p.(Arg82Trp)
Unknown
-
likely benign (!)
g.18143949G>A
g.18143718G>A
-
-
TPMT_000340
reference haplotype TPMT*34
-
-
rs111901354
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.262G>A
TPMT*43
r.(?)
p.(Gly88Ser)
Parent #1
-
benign (!)
g.18143931C>T
g.18143700C>T
-
-
TPMT_000381
reference haplotype TPMT*43
-
ClinVar-SCV000778515
rs753545734
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.291del
-
r.(?)
p.(Glu98AsnfsTer51)
Paternal (confirmed)
-
benign (!)
g.18143903del
g.18143672del
-
-
TPMT_000296
TPMT*?
PubMed: Torres 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
2-generation family, 1 affected, reduced TPMT activity carrier parents
-
-
France
white
-
-
-
-
1
Johan den Dunnen
+/.
4
c.292G>T
TPMT*3D
r.(?)
p.(Glu98*)
Parent #1
-
benign (!)
g.18143901C>A
g.18143670C>A
-
-
TPMT_000032
-
PubMed: Otterness 1997
-
rs72552739
Germline
-
1/29 samples
-
-
-
DNA
SEQ
-
-
THPM1
-
-
from 283 controls analysed
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
-?/.
4
c.292G>T
TPMT*3D
r.(?)
p.(Glu98*)
Unknown
-
likely benign
g.18143901C>A
g.18143670C>A
-
-
TPMT_000032
reference haplotype TPMT*3D
-
-
rs72552739
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.319T>G
TPMT*27
r.(?)
p.(Tyr107Asp)
Parent #1
-
benign (!)
g.18143874A>C
g.18143643A>C
-
-
TPMT_000270
-
PubMed: Feng 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
-
-
-
Thailand
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.319T>G
TPMT*27
r.(?)
p.(Tyr107Asp)
Unknown
-
benign (!)
g.18143874A>C
g.18143643A>C
-
-
TPMT_000270
reference haplotype TPMT*27
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
4
c.339C>T
-
r.(?)
p.(=)
Unknown
-
likely benign
g.18143854G>A
g.18143623G>A
-
-
TPMT_000019
-
PubMed: Otterness 1997
-
-
Germline
-
1/30 samples
-
-
-
DNA
SEQ
-
-
THPM1
-
-
from 283 controls analysed
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
-?/.
4
c.339C>T
-
r.(?)
p.(=)
Unknown
-
likely benign
g.18143854G>A
g.18143623G>A
-
-
TPMT_000019
-
PubMed: Otterness 1997
-
-
Germline
-
1/25 samples
-
-
-
DNA
SEQ
-
-
THPM1
-
-
from 283 controls analysed
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.340G>A
TPMT*32
r.(?)
p.(Glu114Lys)
Unknown
-
benign (!)
g.18143853C>T
g.18143622C>T
-
-
TPMT_000320
activity 9.7 units (mercaptopurine derived TGNs 694 pmol at 75 mg/m-2 mercaptopurine); haplotype TPMT*1/*32
PubMed: Lennard 2013
-
rs115106679
Germline
-
1/1137 individuals
-
-
-
DNA
SEQ
-
-
THPM1
-
PubMed: Lennard 2013
-
-
?
(United Kingdom (Great Britain))
-
-
-
-
-
1
Johan den Dunnen
+?/.
4
c.340G>A
TPMT*32
r.(?)
p.(Glu114Lys)
Unknown
-
likely benign (!)
g.18143853C>T
g.18143622C>T
-
-
TPMT_000320
reference haplotype TPMT*32
-
-
rs115106679
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.349G>C
TPMT*28
r.(?)
p.(Gly117Arg)
Parent #1
-
benign (!)
g.18143844C>G
g.18143613C>G
349G>A
-
TPMT_000280
suggested residual TPMT activity
PubMed: Landy 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
THPM1
-
-
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.349G>C
TPMT*28
r.(?)
p.(Gly117Arg)
Unknown
-
benign (!)
g.18143844C>G
g.18143613C>G
-
-
TPMT_000280
reference haplotype TPMT*28
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
reference haplotype
-
-
-
-
-
-
-
-
1
Johan den Dunnen
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