Global Variome shared LOVD
AR (androgen receptor)
LOVD v.3.0 Build 30b [
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Curators:
Carolina Lemos
and
Bruce Gottlieb
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The variants shown are described using the NM_000044.3 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
P-domain
: region/domain protein affected
Enzyme activity
: activity variant enzym
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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1687 entries on 17 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
Haplotype
RNA change
Protein
P-domain
Enzyme activity
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.1500T>?
-
r.(?)
p.(=)
N-term
-
Parent #1
-
pathogenic
g.?
-
(Pro500Pro)
-
AR_000509
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M; >2 cases
rM
-
-
-
-
-
-
-
3
Bruce Gottlieb
+/.
1
c.?C>T
-
r.(?)
p.(=)
N-term
-
Parent #1
-
pathogenic
g.?
-
2558C>T (Tyr481Tyr)
-
AR_000000
-
Yeh et al. Int J Cancer 120: 1610-1617, 2007
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
5
c.?del
-
r.(?)
p.?
LBD
Bmax zero
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
affected aunt exon 6-7deletion only
Maclean et al. J Clin Invest, 91: 1123, 1993
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1_8
c.(?_-1115)_(*436_?)del
-
r.0
p.0
-
Bmax zero
Parent #1
-
pathogenic
g.?
-
-
-
AR_000122
-
PubMed: Ahmed 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1_8
c.(?_-1115)_(*436_?)del
-
r.0
p.0
-
Bmax zero
Parent #1
-
pathogenic
g.?
-
-
-
AR_000122
-
PubMed: Hiort 1996
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1_8
c.(?_-1115)_(*436_?)del
-
r.0
p.0
-
Bmax zero
Parent #1
-
pathogenic
g.?
-
-
-
AR_000122
-
Quigley et al. J Clin Endocrinol Metab 74: 927-933, 1992
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1_8
c.(?_-1115)_(*436_?)del
-
r.0
p.0
-
Bmax zero
Parent #1
-
pathogenic
g.?
-
-
-
AR_000122
deletion breakpoints not yet defined
Trifiro et al. Mol Cell Endocrinol 75: 37-47, 1991
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.-912C>A
-
r.(?)
p.(=)
-
-
Parent #1
-
pathogenic
g.66764077C>A
g.67544235C>A
203C>A
-
AR_000148
pos +214 from transcription initiation site AR-TIS II Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
PubMed: Crocitto 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.-800G>T
-
r.(?)
p.?
-
-
Parent #1
-
pathogenic
g.66764189G>T
g.67544347G>T
(415G>T)
-
AR_000147
pos +2 from transcription initiation site AR-TIS II Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
PubMed: Crocitto 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.-547C>T
-
r.(-547c>u)
p.(Met1_Ter921del)
-
-
Maternal (confirmed)
-
pathogenic (recessive)
g.66764442C>T
g.67544600C>T
-
46,XY
AR_000755
variant creates translational initiation codon ATG imbedded in vertebrate Kozak sequence (uORF); in vitro functional analysis performed
PubMed: Hornig 2016
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
AIS
Pat1
PubMed: Hornig 2016
-
rF
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.-547C>T
-
r.(-547c>u)
p.(Met1_Ter921del)
-
-
Maternal (confirmed)
-
pathogenic (recessive)
g.66764442C>T
g.67544600C>T
-
46,XY
AR_000755
variant creates translational initiation codon ATG imbedded in variant creates translational initiation codon ATG imbedded in vertebrate Kozak sequence (uORF); in vitro functional analysis performed
PubMed: Hornig 2016
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
AIS
Pat2
PubMed: Hornig 2016
-
rF
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.92_331[ins120_156]
CAG[40_52]
r.(?)
p.(Arg31_Asp111delinsHis)
N-term
-
Parent #1
-
pathogenic
g.66765080_66765319[ins120_156]
-
-
-
AR_000450
expansion of repeat from 40-52 CAGs
PubMed: La Spada 1991
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
SMAX1;SBMA
2062380-FamKD
PubMed: La Spada 1991
15 families
M
-
United States
-
-
-
-
-
15
Bruce Gottlieb
+/.
1
c.?
-
r.(?)
p.(Gly489fs*)
N-term
Bmax low
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Ahmed 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
2i
c.?
-
r.spl?
p.?
-
Bmax zero
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Ahmed 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
2i
c.?
-
r.spl?
p.?
-
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Ahmed 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
3
c.?
-
r.(?)
p.?
DBD
Bmax zero
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Ahmed 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
3
c.?
-
r.(?)
p.?
DBD
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Ahmed 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.?
-
r.(?)
p.(Ser83fs*)
N-term
Bmax zero; kD zero
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Audi 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
?
c.?
-
r.(?)
p.?
-
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Audi 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
19377431-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
2
c.?
-
r.(?)
p.?
-
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
no immunoreactive AR
PubMed: Avila 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
2
c.?
-
r.(?)
p.?
-
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
no immunoreactive AR
PubMed: Avila 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
2i
c.?
-
r.(?)
p.?
-
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Boehmer 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PAIS
-
-
sex of rearing M; related to 0749
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
4
c.?
-
r.(?)
p.(Val716*)
LBD
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Bouvattier 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
7
c.?
-
r.(?)
p.(Asn849fs*)
LBD
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Cheikhelard 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
7
c.?
-
r.(?)
p.(Val867fs*)
LBD
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Cheikhelard 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
7
c.?
-
r.(?)
p.(Val867fs*)
LBD
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Cheikhelard 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.?
-
r.(?)
142
N-term
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Hiort 1996
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
3
c.?
-
r.(?)
p.?
DBD
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Hiort 1996
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
?
c.?
-
r.(?)
p.?
-
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
PubMed: Melo 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
19377430-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
4
c.?
-
r.(?)
p.?
LBD
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
Aiken et al. Am J Obs & Gyn 165:1891-1894, 1991
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MAIS
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
5
c.?
-
r.(?)
p.(Tyr?Arg)
LBD
Bmax zero
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
Marcelli et al. 74th US Endo Soc Meetings: Abstr. 224, 1992
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
-/-
8
c.?
-
r.(?)
p.?
3' UTR
-
Parent #1
-
benign
g.?
-
-
-
AR_000000
-
Paz et al. European Urology 31: 209-215, 1997
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
2
c.?
-
r.(?)
p.?
-
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
Quigley et al. J Cell Biochem Suppl 16C. Abstr. L323, 1992
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/+
3
c.?
-
r.(?)
p.?
DBD
Bmax high; kD normal
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
produces internally deleted protein
Quigley et al. Mol Endocrinol 6: 1103, 1992
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
7
c.?
-
r.(?)
p.?
LBD
-
Parent #1
-
pathogenic
g.?
-
insATG
-
AR_000000
ATG insertion at codon 869
Scheiber et al. J Pediatric Endo Metab 16: 367-373, 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.?
-
r.(?)
p.(Arg485Cys)
N-term
-
Unknown
-
pathogenic
g.?
-
-
-
AR_000000
AR23
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.?
-
r.(?)
p.(Arg485Cys)
N-term
-
Unknown
-
pathogenic
g.?
-
-
-
AR_000000
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.?
-
r.(?)
p.(Arg485Cys)
N-term
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M; 2 cases
rM
-
-
-
-
-
-
-
2
Bruce Gottlieb
+/.
1
c.?
-
r.(?)
p.(Arg485Thr)
N-term
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M; 2 cases
rM
-
-
-
-
-
-
-
2
Bruce Gottlieb
+/.
5
c.?
-
r.(?)
p.(=)
LBD
-
Parent #1
-
pathogenic
g.?
-
(Arg761Arg)
-
AR_000000
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M; >2 cases
rM
-
-
-
-
-
-
-
3
Bruce Gottlieb
+/.
8
c.?
-
r.(?)
p.(Gln828*)
N-term
-
Unknown
-
pathogenic
g.?
-
-
-
AR_000000
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
5
c.?
-
r.(?)
p.(Arg761fs*)
LBD
Bmax zero
Unknown
-
pathogenic
g.?
-
-
-
AR_000000
-
Vichlis et al. J Hum Genet 48: 346-351, 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
12908100-Fam
PubMed: Vichlis 2003
4-generation family, 4 affecteds, 4 unaffected carrier females
rF
-
Mexico
-
-
-
-
-
4
Bruce Gottlieb
+/+
8
c.?
-
r.(?)
p.(Phe917*)
LBD
-
Parent #1
-
pathogenic
g.?
-
-
-
AR_000000
neg. N/C interaction
Werner et al. Sex Dev 2: 73-83, 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F; affect sister and aunts
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/+
1
c.?
-
r.(?)
p.(=)
-
-
Unknown
-
pathogenic
g.?
-
1034T>G
-
AR_000000
-
Yeh et al. Int J Cancer 120: 1610-1617, 2007
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.4G>A
-
r.(?)
p.(Glu2Lys)
N-term
Bmax low; kD high
Parent #1
-
pathogenic
g.66764992G>A
g.67545150G>A
1119G>A
-
AR_000136
-
PubMed: Audi 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F; mother heterozygous
rF
-
-
-
-
-
-
-
2
Bruce Gottlieb
+/+
1
c.4G>A
-
r.(?)
p.(Glu2Lys)
N-term
k high
Parent #1
-
pathogenic
g.66764992G>A
g.67545150G>A
1119G>A
-
AR_000136
variant protein 20-50% reduced
PubMed: Choong 1996
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PAIS
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
?/.
-
c.7G>A
-
r.(?)
p.(Val3Met)
-
-
Unknown
-
VUS
g.66764995G>A
g.67545153G>A
AR(NM_000044.3):c.7G>A (p.(Val3Met))
-
AR_000627
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.10C>T
-
r.(?)
p.(Gln4*)
-
-
Unknown
ACMG
pathogenic
g.66764998C>T
-
-
-
AR_000723
-
PubMed: Mendonca 2021
-
-
Somatic
-
0.069
-
-
-
DNA
SEQ-NG-I
blood/FFPE tumor
-
RB1
Patient 21
PubMed: Mendonca 2021
-
M
no
Brazil
-
-
-
-
-
1
Vanessa Mendonça
+/.
1
c.19del
-
r.(?)
p.(Leu7TrpfsTer27)
N-term
-
Parent #1
-
pathogenic
g.66765007del
g.67545165del
1134delC
-
AR_000328
-
PubMed: Barbaro 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.39_42dup
-
r.(?)
p.(Pro15fs*)
N-term
-
Parent #1
-
pathogenic
g.66765027_66765030dup
g.67545185_67545188dup
1154_1157dupGCCG
-
AR_000398
-
PubMed: Audi 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
-?/.
-
c.72G>A
-
r.(?)
p.(Gln24=)
-
-
Unknown
-
likely benign
g.66765060G>A
-
AR(NM_000044.4):c.72G>A (p.Q24=)
-
AR_000724
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.82C>T
-
r.(?)
p.(Q28X
-
-
Parent #1
-
pathogenic
g.66765070C>T
g.67545228C>T
-
-
AR_000315
-
PubMed: Katayama 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
19377357-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
-
c.(92_331)insN[54]
CAG[41]
r.(?)
p.(Gln58[41])
-
-
Maternal (confirmed)
-
pathogenic (recessive)
g.(66765080_66765319)insN[54]
g.(67545238_67545477)insN[54]
CAG-41
-
AR_000730
-
PubMed: Udd 1998
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
SMAX1;SBMA
9724012-Fam6
PubMed: Udd 1998
3-generation family, 1 affected, unaffected carrier female
M
-
Finland
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(92_331)insN[57]
CAG[42]
r.(?)
p.(Gln58[42])
-
-
Maternal (confirmed)
-
pathogenic (recessive)
g.(66765080_66765319)insN[57]
g.(67545238_67545477)insN[57]
CAG-42
-
AR_000731
-
PubMed: Udd 1998
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
SMAX1;SBMA
9724012-Fam8
PubMed: Udd 1998
3-generation family, 1 affected, unaffected carrier females
M
-
Finland
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(92_331)insN[63]
CAG[44]
r.(?)
p.(Gln58[44])
-
-
Maternal (confirmed)
-
pathogenic (recessive)
g.(66765080_66765319)insN[63]
g.(67545238_67545477)insN[63]
CAG-44
-
AR_000729
-
PubMed: Udd 1998
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
SMAX1;SBMA
9724012-Fam1
PubMed: Udd 1998
2-generation family, 1 affected, unaffected carrier female
M
-
Finland
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(92_331)insN[63]
CAG[44]
r.(?)
p.(Gln58[44])
-
-
Maternal (confirmed)
-
pathogenic
g.(66765080_66765319)insN[63]
g.(67545238_67545477)insN[63]
CAG-44
-
AR_000729
-
PubMed: Udd 1998
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
SMAX1;SBMA
9724012-Fam2
PubMed: Udd 1998
5-generation family, 4 affected, unaffected carrier females
M
-
Finland
-
-
-
-
-
4
Johan den Dunnen
+/.
-
c.(92_331)insN[63]
CAG[44]
r.(?)
p.(Gln58[44])
-
-
Maternal (confirmed)
-
pathogenic (recessive)
g.(66765080_66765319)insN[63]
g.(67545238_67545477)insN[63]
CAG-44
-
AR_000729
-
PubMed: Udd 1998
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
SMAX1;SBMA
9724012-Fam3
PubMed: Udd 1998
4-generation family, 1 affected, unaffected carrier female
M
-
Finland
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(92_331)insN[66]
CAG[45]
r.(?)
p.(Gln58[45])
-
-
Maternal (confirmed)
-
pathogenic
g.(66765080_66765319)insN[66]
g.(67545238_67545477)insN[66]
CAG-45
-
AR_000727
-
PubMed: Udd 1998
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
SMAX1;SBMA
9724012-Fam5
PubMed: Udd 1998
3-generation family, 1 affected, unaffected carrier female
M
-
Finland
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(92_331)insN[66]
CAG[45]
r.(?)
p.(Gln58[45])
-
-
Maternal (confirmed)
-
pathogenic (recessive)
g.(66765080_66765319)insN[66]
g.(67545238_67545477)insN[66]
CAG-45
-
AR_000727
-
PubMed: Udd 1998
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
SMAX1;SBMA
9724012-Fam9
PubMed: Udd 1998
5-generation family, 2 affecteds, unaffected carrier females
M
-
Finland
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.(92_331)insN[69]
CAG[46]
r.(?)
p.(Gln58[46])
-
-
Maternal (confirmed)
-
pathogenic (recessive)
g.(66765080_66765319)insN[69]
g.(67545238_67545477)insN[69]
CAG-46
-
AR_000732
-
PubMed: Udd 1998
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
SMAX1;SBMA
9724012-Fam7
PubMed: Udd 1998
4-generation family, 2 affecteds, unaffected carrier females
M
-
Finland
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.(92_331)insN[72]
CAG[47]
r.(?)
p.(Gln58[47])
-
-
Maternal (confirmed)
-
pathogenic (recessive)
g.(66765080_66765319)insN[72]
g.(67545238_67545477)insN[72]
CAG-47
-
AR_000728
-
PubMed: Udd 1998
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
SMAX1;SBMA
9724012-Fam4
PubMed: Udd 1998
4-generation family, 1 affected, unaffected carrier female
M
-
Finland
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(92_331)insN[72]
CAG[47]
r.(?)
p.(Gln58[47])
-
-
Maternal (confirmed)
-
pathogenic (recessive)
g.(66765080_66765319)insN[72]
g.(67545238_67545477)insN[72]
CAG-47
-
AR_000728
-
PubMed: Udd 1998
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
SMAX1;SBMA
9724012-Fam10
PubMed: Udd 1998
4-generation family, 1 affected, unaffected carrier females
M
-
Finland
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.115_117del
-
r.(?)
p.(Pro39del)
N-term
-
Parent #1
-
pathogenic
g.66765103_66765105del
g.67545261_67545263del
1230_1232delCCC
-
AR_000446
-
Jung et al. Human Genetics 114: 222, 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing ?
-
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.118del
-
r.(?)
p.(Arg40GlyfsTer135)
N-term
-
Parent #1
-
pathogenic
g.66765106del
g.67545264del
1233delA
-
AR_000420
-
Decaestecker et al.Fertility & Sterility 89: 1260 e3-7, 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
-?/.
-
c.119G>A
-
r.(?)
p.(Arg40Lys)
-
-
Unknown
-
likely benign
g.66765107G>A
g.67545265G>A
AR(NM_000044.4):c.119G>A (p.R40K)
-
AR_000718
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.125del
-
r.(?)
p.(Pro42GlnfsTer133)
N-term
Bmax zero
Parent #1
-
pathogenic
g.66765113del
g.67545271del
1240delC
-
AR_000234
-
PubMed: Boehmer 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F; affected sibling
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
-
c.127G>T
-
r.(?)
p.(Glu43Ter)
-
-
Unknown
-
pathogenic
g.66765115G>T
g.67545273G>T
AR(NM_000044.4):c.127G>T (p.E43*)
-
AR_000628
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.128A>G
-
r.(?)
p.(Glu43Gly)
N-term
-
Parent #1
-
pathogenic
g.66765116A>G
g.67545274A>G
1243A>G
-
AR_000499
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M; 2 cases
rM
-
-
-
-
-
-
-
2
Bruce Gottlieb
?/.
-
c.134C>G
-
r.(?)
p.(Ala45Gly)
-
-
Unknown
-
VUS
g.66765122C>G
-
AR(NM_000044.3):c.134C>G (p.(Ala45Gly))
-
AR_000753
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.159_171del
-
r.(?)
p.(Leu54SerfsTer117)
-
-
Unknown
-
pathogenic
g.66765147_66765159del
g.67545305_67545317del
AR(NM_000044.4):c.159_171delTTTGCTGCTGCTG (p.L54Sfs*117)
-
AR_000629
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.161T>C
-
r.(?)
p.(Leu54Ser)
N-term
-
Parent #1
-
pathogenic
g.66765149T>C
g.67545307T>C
1276T>C
-
AR_000549
-
Tilley et al. Clinical Cancer Res. 2: 277-285, 1996
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.163dup
-
r.(?)
p.(Leu55ProfsTer29)
N-term
-
Parent #1
-
pathogenic
g.66765151dup
g.67545309dup
1278_1279insC
-
AR_000353
-
PubMed: Philibert 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.170T>A
-
r.(?)
p.(Leu57Gln)
N-term
-
Unknown
-
pathogenic
g.66765158T>A
g.67545316T>A
-
-
AR_000411
-
Chelnski et al. The Prostate 47: 66-75, 2001
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.170T>A
-
r.(?)
p.(Leu57Gln)
N-term
-
Parent #1
-
pathogenic
g.66765158T>A
g.67545316T>A
1285T>A
-
AR_000411
-
Tilley et al. Clinical Cancer Res. 2: 277-285, 1996
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.170T>A
-
r.(?)
p.(Leu57Gln)
N-term
-
Parent #1
-
pathogenic
g.66765158T>A
g.67545316T>A
1285T>A
-
AR_000411
-
Yeh et al. Int J Cancer 120: 1610-1617, 2007
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.170_172del
-
r.(?)
p.(Leu57del)
N-term
-
Parent #1
-
pathogenic
g.66765158_66765160del
g.67545316_67545318del
1284_1286delCTG
-
AR_000421
seminoma
Garolla et al. Encdorine Related Cancer 12: 645-655, 2005
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.170_172dup
-
r.(?)
p.(Leu57dup)
N-term
-
Parent #1
-
pathogenic
g.66765158_66765160dup
g.67545316_67545318dup
-
-
AR_000323
-
PubMed: Ferlin 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MAIS
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
?/.
-
c.170_175del
-
r.(?)
p.(Leu57_Gln58del)
-
-
Unknown
-
VUS
g.66765158_66765163del
-
AR(NM_000044.4):c.170_175delTGCAGC (p.L57_Q58del)
-
AR_000725
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.170_178del
-
r.(?)
p.(Leu57_Gln59del)
-
-
Unknown
-
likely benign
g.66765158_66765166del
-
AR(NM_000044.6):c.170_178delTGCAGCAGC (p.L57_Q59del)
-
AR_000739
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.172_173insTGCAGCAGCAGC
-
r.(?)
p.(Leu57_Gln58insLeuGlnGlnGln)
-
-
Unknown
-
VUS
g.66765160_66765161insTGCAGCAGCAGC
-
AR(NM_000044.6):c.172_173insTGCAGCAGCAGC (p.(Leu57_Gln58insLeuGlnGlnGln))
-
AR_000758
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.173A>T
-
r.(?)
p.(Gln58Leu)
N-term
-
Parent #1
-
pathogenic
g.66765161A>T
g.67545319A>T
1288A>T
-
AR_000267
-
PubMed: Lund 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
INFM
-
-
sex of rearing M; 2/62 patients with male infertility
rM
-
-
-
-
-
-
-
2
Bruce Gottlieb
?/.
1
c.173A>T
-
r.(?)
p.(Gln58Leu)
N-term
-
Unknown
-
VUS
g.66765161A>T
g.67545319A>T
-
-
AR_000267
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.173A>T
-
r.(?)
p.(Gln58Leu)
N-term
-
Unknown
-
pathogenic
g.66765161A>T
g.67545319A>T
-
-
AR_000267
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.173A>T
-
r.(?)
p.(Gln58Leu)
N-term
-
Unknown
-
pathogenic
g.66765161A>T
g.67545319A>T
-
-
AR_000267
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.173A>T
-
r.(?)
p.(Gln58Leu)
DBD
-
Unknown
-
pathogenic
g.66765161A>T
g.67545319A>T
-
-
AR_000267
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
+/.
1
c.173A>T
-
r.(?)
p.(Gln58Leu)
N-term
-
Unknown
-
pathogenic
g.66765161A>T
g.67545319A>T
-
-
AR_000267
-
Steinkamp et al. Cancer Res 69: 4434-4442, 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
PubMed: Audi 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F; sister and 2 aunts affected
rF
-
-
-
-
-
-
-
4
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
Bmax normal; kD normal
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
PubMed: Audi 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PAIS
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
PubMed: Audi 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F; mother and cousin hetrozygous, cousin and aunt affected, sister wt
rF
-
-
-
-
-
-
-
3
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
PubMed: Audi 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F; affected sister, heterozygote sister, 2 wt sisters
rF
-
-
-
-
-
-
-
3
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
PubMed: Audi 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F; mother heterozygous carrier
rF
-
-
-
-
-
-
-
2
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
Bmax v low
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
PubMed: Gottlieb 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
Bmax low
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
PubMed: MacLean 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
Bmax low
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
PubMed: Melo 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PAIS
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
Bmax zero
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
PubMed: Melo 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
Bmax low; k normal
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
PubMed: Pinsky 1992
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PAIS
-
-
sex of rearing ?
-
-
-
-
-
-
-
-
1
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
Bmax low; kD normal
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
Beitel et al. Hum Mol Genet, 3: 21, 1994
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AIS
-
-
sex of rearing F
rF
-
-
-
-
-
-
-
1
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
cancer, prostate
-
-
sex of rearing M; 2 different patients
rM
-
-
-
-
-
-
-
2
Bruce Gottlieb
?/.
1
c.174_239=
CAG[22]
r.(?)
p.(=)
-
Bmax normal
Unknown
-
VUS
g.66765162_66765227=
g.67545320_67545385=
CAG-22
-
AR_000000
-
Wong et al. Mol Cell Endocrinol 292: 69-78, 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PAIS
-
-
sex of rearing M
rM
-
-
-
-
-
-
-
1
Bruce Gottlieb
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