Global Variome shared LOVD
ALDH3A2 (aldehyde dehydrogenase 3 family, member A2)
LOVD v.3.0 Build 30b [
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Curator:
Maximilian Weustenfeld
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The variants shown are described using the NM_000382.2 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.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
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
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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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
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>
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
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>=
Numeric
>=23
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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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293 entries on 3 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+?/+
-
c.-835830_*581312del
r.0?
p.0?
Paternal (confirmed)
-
likely pathogenic
g.18716455_20160197del
g.18813142_20256884del
deletion of 17p11.2 [chr17:18716455-20160197] in NCBI36/hg18
-
ALDH3A2_000025
1,44 Mb interstitial deletion that spans 15 genes
PubMed: Engelstad 2011
,
Journal: Engelstad 2011
-
-
Germline
-
-
-
-
-
DNA
FISH, PCRdig, PCRlr
cultured fibroblasts and blood
-
SLS
-
PubMed: Engelstad 2011
,
Journal: Engelstad 2011
Mother: Irish and Cherokee Indian descent Father: English and American Indian descent
F
no
United States
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.-106175_*219565del
r.0?
p.0?
Both (homozygous)
-
pathogenic
g.19446121_19798461del
g.19542808_19895148del
"deletion breakpoints at nucleotide 19446110 and 19798450"
-
ALDH3A2_000024
large deletion (352 kb) including complete ALDH3A2-gene and ALDH3A1, ULK2, SLC47A1, SLC47A2
PubMed: Engelstad 2011
,
Journal: Engelstad 2011
-
-
Germline
-
-
-
-
-
DNA
PCR, PCRlr, PCRm
cultured fibroblasts and blood
-
SLS
-
PubMed: Engelstad 2011
,
Journal: Engelstad 2011
-
F
yes
United States
-
-
-
-
therapy with etretinate, then isotretinoin (discontinued)
1
Maximilian Weustenfeld
+?/+
-
c.-58107_472-584del
r.(=)
p.(=)
Both (homozygous)
-
likely pathogenic
g.19494178_19559095del
g.19590865_19655782del
-
-
ALDH3A2_000081
large deletion (67kb) includes exons 1-5 of ALDH3A2
PubMed: Gaboon 2015
-
-
Germline
-
-
-
-
-
DNA
arraySNP
-
-
SLS
-
PubMed: Gaboon 2015
-
F
yes
Saudi Arabia
-
-
-
-
-
1
Maximilian Weustenfeld
+/+?
-
c.10G>T
r.(?)
p.(Glu4*)
Both (homozygous)
-
pathogenic
g.19552294G>T
g.19648981G>T
-
-
ALDH3A2_000107
-
PubMed: Shah 2017
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Shah 2017
all three patients of this paper are brothers
M
yes
Pakistan
-
?
-
-
-
1
Maximilian Weustenfeld
+/+?
-
c.10G>T
r.(?)
p.(Glu4*)
Both (homozygous)
-
pathogenic
g.19552294G>T
g.19648981G>T
-
-
ALDH3A2_000107
-
PubMed: Shah 2017
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Shah 2017
all three patients of this paper are brothers
M
yes
Pakistan
-
?
-
-
-
1
Maximilian Weustenfeld
+/+?
-
c.10G>T
r.(?)
p.(Glu4*)
Both (homozygous)
-
pathogenic
g.19552294G>T
g.19648981G>T
-
-
ALDH3A2_000107
-
PubMed: Shah 2017
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Shah 2017
all three patients of this paper are brothers
M
yes
Pakistan
-
-
-
-
-
1
Maximilian Weustenfeld
?/.
-
c.14T>C
r.(?)
p.(Val5Ala)
Unknown
-
VUS
g.19552298T>C
g.19648985T>C
ALDH3A2(NM_000382.2):c.14T>C (p.(Val5Ala))
-
ALDH3A2_000088
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+?
-
c.24_25delinsTT
r.(?)
p.(Arg9*)
Both (homozygous)
-
pathogenic
g.19552308_19552309delinsTT
g.19648995_19648996delinsTT
c.24-25CC>TT
-
ALDH3A2_000110
homozygous state inferred by submitter
PubMed: Incecik 2018
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Incecik 2018
patients 5 and 6 are siblings
M
yes
Turkey
-
-
-
-
-
1
Maximilian Weustenfeld
+/+?
-
c.24_25delinsTT
r.(?)
p.(Arg9*)
Both (homozygous)
-
pathogenic
g.19552308_19552309delinsTT
g.19648995_19648996delinsTT
c.24-25CC>TT
-
ALDH3A2_000110
homozygous state inferred by submitter
PubMed: Incecik 2018
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Incecik 2018
patients 5 and 6 are siblings
F
yes
Turkey
-
-
-
-
-
1
Maximilian Weustenfeld
./.
-
c.25_50del
r.(?)
p.(Arg9Alafs*36)
Unknown
-
pathogenic
g.19552309_19552334del
g.19648996_19649021del
c.21_46del
-
ALDH3A2_000013
-
PubMed: Willemsen 2001
-
-
Germline
-
-
-
-
-
DNA
PCRdig
blood
-
SLS
-
PubMed: Willemsen 2001
-
M
no
Netherlands
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.25_50del
r.(?)
p.(Arg9Alafs*36)
Both (homozygous)
-
likely pathogenic
g.19552309_19552334del
g.19648996_19649021del
-
-
ALDH3A2_000085
-
PubMed: Kariminejad 2017
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Kariminejad 2017
-
M
yes
Iran
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.25_50del
r.(?)
p.(Arg9Alafs*36)
Both (homozygous)
-
likely pathogenic
g.19552309_19552334del
g.19648996_19649021del
-
-
ALDH3A2_000085
-
PubMed: Kariminejad 2017
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Kariminejad 2017
-
F
yes
Iran
-
-
-
-
-
1
Maximilian Weustenfeld
-?/.
-
c.28C>G
r.(?)
p.(Gln10Glu)
Unknown
-
likely benign
g.19552312C>G
g.19648999C>G
ALDH3A2(NM_000382.2):c.28C>G (p.(Gln10Glu)), ALDH3A2(NM_000382.3):c.28C>G (p.Q10E), ALDH3A2(NM_001031806.2):c.28C>G (p.Q10E)
-
ALDH3A2_000089
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.28C>G
r.(?)
p.(Gln10Glu)
Unknown
-
likely benign
g.19552312C>G
g.19648999C>G
ALDH3A2(NM_000382.2):c.28C>G (p.(Gln10Glu)), ALDH3A2(NM_000382.3):c.28C>G (p.Q10E), ALDH3A2(NM_001031806.2):c.28C>G (p.Q10E)
-
ALDH3A2_000089
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.28C>G
r.(?)
p.(Gln10Glu)
Unknown
-
likely benign
g.19552312C>G
-
ALDH3A2(NM_000382.2):c.28C>G (p.(Gln10Glu)), ALDH3A2(NM_000382.3):c.28C>G (p.Q10E), ALDH3A2(NM_001031806.2):c.28C>G (p.Q10E)
-
ALDH3A2_000089
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+
1
c.28C>T
r.(?)
p.(Gln10*)
Parent #1
-
likely pathogenic
g.19552312C>T
g.19648999C>T
p.Q10X
-
ALDH3A2_000063
-
PubMed: Sanabria 2011
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Sanabria 2011
-
M
no
(Spain)
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
1
c.28C>T
r.(?)
p.(Gln10*)
Parent #1
-
likely pathogenic
g.19552312C>T
g.19648999C>T
p.Q10X
-
ALDH3A2_000063
-
PubMed: Sanabria 2011
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Sanabria 2011
-
F
no
(Spain)
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.73C>T
r.(?)
p.(Gln25*)
Parent #1
-
likely pathogenic
g.19552357C>T
g.19649044C>T
Gln25Stop
-
ALDH3A2_000065
-
PubMed: Jean-François 2007
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Jean-François 2007
-
M
?
(United States)
African American
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.80T>C
r.(?)
p.(Leu27Pro)
Both (homozygous)
-
pathogenic
g.19552364T>C
g.19649051T>C
c.80C>T (???)
-
ALDH3A2_000014
-
PubMed: Willemsen 2001
-
-
Germline
-
-
-
-
-
DNA
PCRdig
blood
-
SLS
-
PubMed: Willemsen 2001
-
F
yes
Netherlands
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.80T>C
r.(?)
p.(Leu27Pro)
Unknown
-
pathogenic
g.19552364T>C
g.19649051T>C
c.80C>T (???)
-
ALDH3A2_000014
-
PubMed: Willemsen 2001
-
-
Germline
-
-
-
-
-
DNA
PCRdig
blood
-
SLS
-
PubMed: Willemsen 2001
-
F
no
Netherlands
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.103C>T
r.(?)
p.(Gln35*)
Both (homozygous)
-
likely pathogenic
g.19552387C>T
g.19649074C>T
-
-
ALDH3A2_000086
-
PubMed: Kariminejad 2017
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Kariminejad 2017
-
M
yes
Iran
-
-
-
-
intensive physiotherapy; surgery for tendon release (at 5 years of age); surgery for hip dislocation (at 6 years of age)
1
Maximilian Weustenfeld
+?/+
-
c.103del
r.(?)
p.(Gln35Argfs*8)
Parent #2
-
likely pathogenic
g.19552387del
g.19649074del
nt103delC
-
ALDH3A2_000066
-
PubMed: Sillen 1989
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sillen 1998
-
?
no
Sweden
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.103del
r.(?)
p.(Gln35Argfs*8)
Parent #2
-
likely pathogenic
g.19552387del
g.19649074del
-
-
ALDH3A2_000066
-
PubMed: Sillen 1998
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sillen 1998
-
?
no
Sweden
-
-
-
-
-
1
Maximilian Weustenfeld
?/.
-
c.119A>G
r.(?)
p.(Asp40Gly)
Unknown
-
VUS
g.19552403A>G
g.19649090A>G
ALDH3A2(NM_001031806.1):c.119A>G (p.D40G)
-
ALDH3A2_000090
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+
1
c.126del
r.(?)
p.(Thr43Argfs*64)
Maternal (confirmed)
-
likely pathogenic
g.19552410del
g.19649097del
-
-
ALDH3A2_000072
-
{DOI:Madhu Nagappa 2017: http://dx.doi.org/10.1212/WNL.0000000000003456}
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Nagappa 2017
{DOI:Madhu Nagappa 2017: http://dx.doi.org/10.1212/WNL.0000000000003456 }
-
M
no
India
-
-
-
-
-
1
Maximilian Weustenfeld
+/.
1
c.126delG
r.(?)
p.(Thr43ArgfsTer64)
Both (homozygous)
-
pathogenic
g.19552410del
g.19649097del
-
-
ALDH3A2_000072
-
PubMed: Ganapathy 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
TruSight One panel
?
S-4350
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
1
Johan den Dunnen
./.
1
c.142G>T
r.(?)
p.(Asp48Tyr)
Both (homozygous)
-
likely pathogenic
g.19552426G>T
g.19649113G>T
c.142G>T
-
ALDH3A2_000027
aspartic acid residue highly conserved among many members of ALDH family
PubMed: Sakai 2010
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Sakai 2010
-
F
no
India
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
1
c.142G>T
r.(?)
p.(Asp48Tyr)
Both (homozygous)
-
likely pathogenic
g.19552426G>T
g.19649113G>T
c.142G>T
-
ALDH3A2_000027
-
PubMed: Sakai 2010
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Sakai 2010
-
F
no
India
-
-
-
-
multiple antiepileptic medications
1
Maximilian Weustenfeld
-?/.
-
c.154-5A>G
r.spl?
p.?
Unknown
-
likely benign
g.19554855A>G
g.19651542A>G
ALDH3A2(NM_001031806.2):c.154-5A>G
-
ALDH3A2_000125
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+
2
c.154_155del
r.(?)
p.(Ser52*)
Unknown
-
likely pathogenic
g.19554860_19554861del
g.19651547_19651548del
c.154_155delAG
-
ALDH3A2_000078
-
PubMed: García-Peris 2017
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: García-Peris 2017
-
M
no
Spain
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.286_296del
r.(?)
p.(Tyr96Thrfs*39)
Unknown
-
pathogenic
g.19554992_19555002del
g.19651679_19651689del
c.286_296del
-
ALDH3A2_000041
-
PubMed: Carney 2004
,
Journal: Carney 2004
-
-
Germline
-
-
-
-
-
DNA
PCR
cultured cells or blood
-
SLS
Pat1
PubMed: Carney 2004
,
Journal: Carney 2004
-
?
?
(United States)
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
2
c.299_365dup
r.(?)
p.(Ile123Alafs*38)
Both (homozygous)
-
pathogenic
g.19555005_19555071dup
g.19651692_19651758dup
c.299_365dup
-
ALDH3A2_000051
Associated with haplotype 2 (referred to 4 defined haplotypes, constructed using SNPs, for details see paper)
PubMed: Carney 2004
,
Journal: Carney 2004
-
-
Germline
-
-
-
-
-
DNA
PCR
cultured cells or blood
-
SLS
Pat12
PubMed: Carney 2004
,
Journal: Carney 2004
probably consanguineous parents
?
-
(United States)
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.317T>G
r.(?)
p.(Leu106Arg)
Both (homozygous)
-
likely pathogenic
g.19555023T>G
g.19651710T>G
-
-
ALDH3A2_000067
-
PubMed: Sillen 1998
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sillen 1998
-
?
no
Spain
-
-
-
-
-
1
Maximilian Weustenfeld
+/+?
-
c.325G>A
r.(?)
p.(Gly109Arg)
Both (homozygous)
-
pathogenic
g.19555031G>A
g.19651718G>A
G109A
-
ALDH3A2_000111
published was G109A, submitter assumes that it should be c.325G>A in the cDNA sequence which is part of the codon coding for AS 109 in the protein.
PubMed: Rafai 2008
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Rafai 2008
-
F
no
Morocco
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
2
c.332G>A
r.(?)
p.(Trp111*)
Paternal (confirmed)
-
likely pathogenic
g.19555038G>A
g.19651725G>A
332G>A
-
ALDH3A2_000035
truncated protein (about 80% loss of length of FALDH polypeptide)
PubMed: Sakai 2006
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sakai 2006
-
F
no
Japan
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
2
c.370G>A
r.(?)
p.(Gly124Arg)
Both (homozygous)
-
likely pathogenic
g.19555076G>A
g.19651763G>A
c.370G>A
-
ALDH3A2_000008
-
PubMed: Sarret 2012
;
Journal: Sarret 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sarret 2012
;
Journal: Sarret 2012
-
F
yes
Algeria
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
2
c.371_373del
r.(?)
p.(Gly124del)
Both (homozygous)
-
likely pathogenic
g.19555077_19555079del
g.19651764_19651766del
c.370_372del
-
ALDH3A2_000077
-
PubMed: Tavasoli 2016
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Tavasoli 2016
-
M
yes
(Iran)
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
2
c.371_373del
r.(?)
p.(Gly124del)
Both (homozygous)
-
likely pathogenic
g.19555077_19555079del
g.19651764_19651766del
-
-
ALDH3A2_000077
-
PubMed: Kariminejad 2017
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
3M2
-
PubMed: Kariminejad 2017
-
M
yes
Iran
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.374_378del
r.(?)
p.(Ala125Glyfs*12)
Unknown
-
pathogenic
g.19555080_19555084del
g.19651767_19651771del
c.374_378del
-
ALDH3A2_000047
-
PubMed: Carney 2004
,
Journal: Carney 2004
-
-
Germline
-
-
-
-
-
DNA
PCR
cultured cells or blood
-
SLS
Pat5
PubMed: Carney 2004
,
Journal: Carney 2004
-
?
?
United States
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.385+2T>C
r.spl?
p.?
Parent #2
-
likely pathogenic
g.19555093T>C
g.19651780T>C
IVS2+2T>C
-
ALDH3A2_000061
splice site Mutation consequence: "out of frame deletion of exon 2; Termination"
PubMed: Kraus 2000
-
-
Germline
-
-
-
-
-
DNA, RNA
PCR, RT-PCR
blood
-
SLS
-
PubMed: Kraus 2000
-
?
no
Germany
-
-
-
-
-
1
Maximilian Weustenfeld
./.
-
c.386-6A>G
r.(=)
p.(=)
Parent #1
-
-
g.19555854A>G
g.19652541A>G
-
-
ALDH3A2_000075
-
PubMed: Rizzo 2008
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Rizzo 2008
-
M
-
United States
-
-
-
-
-
1
Maximilian Weustenfeld
-?/.
-
c.386-6A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.19555854A>G
g.19652541A>G
ALDH3A2(NM_000382.2):c.386-6A>G (p.?), ALDH3A2(NM_000382.3):c.386-6A>G
-
ALDH3A2_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.386-6A>G
r.(=)
p.(=)
Unknown
-
benign
g.19555854A>G
-
ALDH3A2(NM_000382.2):c.386-6A>G (p.?), ALDH3A2(NM_000382.3):c.386-6A>G
-
ALDH3A2_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+
3
c.407C>T
r.(?)
p.(Pro136Leu)
Maternal (confirmed)
-
likely pathogenic
g.19555881C>T
g.19652568C>T
c.407C>T
-
ALDH3A2_000026
-
PubMed: Engelstad 2011
,
Journal: Engelstad 2011
-
-
Germline
-
-
-
-
-
DNA
FISH, PCRdig, PCRlr
cultured fibroblasts and blood
-
SLS
-
PubMed: Engelstad 2011
,
Journal: Engelstad 2011
Mother: Irish and Cherokee Indian descent Father: English and American Indian descent
F
no
United States
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
3i
c.471+1del
r.spl?
p.?
Both (homozygous)
-
pathogenic
g.19555946del
g.19652633del
c.471+1delG
-
ALDH3A2_000004
mRNA-analysis revealed three different transcripts (r.154-471del; r.386-471del; r.471delG)
Journal: Sarret 2012
;
PubMed: Sarret 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sarret 2012
;
Journal: Sarret 2012
-
F
no
France
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
3i
c.471+1del
r.spl?
p.?
Maternal (inferred)
-
pathogenic
g.19555946del
g.19652633del
c.471+1delG
-
ALDH3A2_000004
-
PubMed: Sarret 2012
;
Journal: Sarret 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sarret 2012
;
Journal: Darret 2012
-
F
no
France
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.471+1del
r.spl?
p.?
Parent #1
-
likely pathogenic
g.19555946del
g.19652633del
IVS3+1delG
-
ALDH3A2_000004
splice site Mutation consequence: "del exon 2+3"
PubMed: Kraus 2000
-
-
Germline
-
-
-
-
-
DNA, RNA
PCR, RT-PCR
blood
-
SLS
-
PubMed: Kraus 2000
-
?
no
Germany
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.471+1G>C
r.spl?
p.?
Parent #2
-
likely pathogenic
g.19555946G>C
g.19652633G>C
IVS3+1G>C
-
ALDH3A2_000059
splice site Mutation consequence: "del exon 2 +3"
PubMed: Kraus 2000
-
-
Germline
-
-
-
-
-
DNA, RNA
PCR, RT-PCR
blood
-
SLS
-
PubMed: Kraus 2000
-
?
no
Germany
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.471+2T>G
r.spl?
p.?
Maternal (confirmed)
-
pathogenic
g.19555947T>G
g.19652634T>G
c.471+2T>G
-
ALDH3A2_000034
splice site mutation (involves donor splice site of exon 3, GT>GG); causes skipping of exons 2 and 3
PubMed: Didona 2007
,
Journal: Didona 2007
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Didona 2007
,
Journal: Didona 2007
-
M
?
Italy
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.471+2T>G
r.spl?
p.?
Parent #2
-
pathogenic
g.19555947T>G
g.19652634T>G
-
-
ALDH3A2_000034
-
PubMed: Rizzo 2008
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Rizzo 2008
-
F
-
United States
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
3i
c.472-1G>T
r.spl?
p.?
Unknown
-
pathogenic
g.19559678G>T
g.19656365G>T
c.472-1G>T
-
ALDH3A2_000005
RNA and protein changes according to paper: r.472-504del; p.Asp158-Glu168del
Journal: Sarret 2012
;
PubMed: Sarret 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sarret 2012
;
Journal: Sarret 2012
-
F
no
France
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
4
c.481del
r.(?)
p.(Ile161Leufs*14)
Maternal (confirmed)
-
likely pathogenic
g.19559688del
g.19656375del
481delA
-
ALDH3A2_000039
-
PubMed: Shibaki 2004
,
Journal: Shibaki 2004
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Shibaki 2004
,
Journal: Shibaki 2004
sibling of Pat2 (same paper)
F
?
Japan
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
4
c.481del
r.(?)
p.(Ile161Leufs*14)
Maternal (confirmed)
-
likely pathogenic
g.19559688del
g.19656375del
481delA
-
ALDH3A2_000039
-
PubMed: Shibaki 2004
,
Journal: Shibaki 2004
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Shibaki 2004
,
Journal: Shibaki 2004
sibling of Pat1 (same paper)
M
?
Japan
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.487dup
r.(?)
p.(Ile163Asnfs*2)
Both (homozygous)
-
pathogenic
g.19559694dup
g.19656381dup
c.487_488insA
-
ALDH3A2_000015
-
PubMed: Willemsen 2001
-
-
Germline
-
-
-
-
-
DNA
PCRdig
blood
-
SLS
-
PubMed: Willemsen 2001
-
F
no
Turkey
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
4
c.503_504dup
r.(?)
p.(Glu169Argfs*7)
Unknown
-
likely pathogenic
g.19559710_19559711dup
g.19656397_19656398dup
c.504_505insAG
-
ALDH3A2_000023
-
PubMed: Tachibana 2012
,
Journal: Tachibana 2012
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Tachibana 2012
,
Journal: Tachibana 2012
-
F
?
(Japan)
-
-
-
-
-
1
Maximilian Weustenfeld
+/.
4
c.521del
r.521del
p.Leu174Argfs*28
Paternal (confirmed)
-
pathogenic
g.19559728del
g.19656415del
T521del
-
ALDH3A2_000001
-
PubMed: De Laurenzi 1996
-
rs387906254
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
SLS
Pat1
PubMed: De Laurenzi 1996
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
no
Japan
-
-
-
-
-
1
Johan den Dunnen
+/+
4
c.529C>T
r.(?)
p.(Arg177*)
Unknown
-
pathogenic
g.19559736C>T
g.19656423C>T
c.529C>T
-
ALDH3A2_000046
Associated with haplotype 2 (referred to 4 defined haplotypes, constructed using SNPs, for details see paper)
PubMed: Carney 2004
,
Journal: Carney 2004
-
-
Germline
-
-
-
-
-
DNA
PCR
cultured cells or blood
-
SLS
Pat5
PubMed: Carney 2004
,
Journal: Carney 2004
-
?
?
United States
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
4
c.529C>T
r.(?)
p.(Arg177*)
Paternal (confirmed)
-
likely pathogenic
g.19559736C>T
g.19656423C>T
-
-
ALDH3A2_000046
-
{DOI:Madhu Nagappa 2017: http://dx.doi.org/10.1212/WNL.0000000000003456}
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Nagappa 2017
{DOI:Madhu Nagappa 2017: http://dx.doi.org/10.1212/WNL.0000000000003456 }
-
M
no
India
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
4
c.536A>T
r.(?)
p.(Asp179Val)
Unknown
-
likely pathogenic
g.19559743A>T
g.19656430A>T
c.536A>T
-
ALDH3A2_000079
-
PubMed: García-Peris
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: García-Peris 2017
-
M
no
Spain
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.551C>G
r.(?)
p.(Thr184Arg)
Both (homozygous)
-
pathogenic
g.19559758C>G
g.19656445C>G
c.551G>C (??)
-
ALDH3A2_000044
??
PubMed: Carney 2004
,
Journal: Carney 2004
-
-
Germline
-
-
-
-
-
DNA
PCR
cultured cells or blood
-
SLS
Pat3
PubMed: Carney 2004
,
Journal: Carney 2004
probably consanguineous parents
?
-
(United States)
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.551C>T
r.(?)
p.(Thr184Met)
Unknown
-
pathogenic
g.19559758C>T
g.19656445C>T
c.551C>T
-
ALDH3A2_000017
-
PubMed: Willemsen 2001
-
-
Germline
-
-
-
-
-
DNA
PCRdig
blood
-
SLS
-
PubMed: Willemsen 2001
-
M
no
Netherlands
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.551C>T
r.(?)
p.(Thr184Met)
Unknown
-
pathogenic
g.19559758C>T
g.19656445C>T
c.551C>T
-
ALDH3A2_000017
-
PubMed: Willemsen 2001
-
-
Germline
-
-
-
-
-
DNA
PCRdig
blood
-
SLS
-
PubMed: Willemsen 2001
-
F
no
Netherlands
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.551C>T
r.(?)
p.(Thr184Met)
Parent #2
-
likely pathogenic
g.19559758C>T
g.19656445C>T
Thr184Met
-
ALDH3A2_000017
-
PubMed: Jean-François 2007
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Jean-François 2007
-
M
?
(United States)
African American
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.551C>T
r.(?)
p.(Thr184Met)
Both (homozygous)
-
likely pathogenic
g.19559758C>T
g.19656445C>T
-
-
ALDH3A2_000017
-
PubMed: Papathemeli 2017
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Papathemeli 2017
-
F
yes
Greece
-
-
-
-
-
1
Maximilian Weustenfeld
+/.
-
c.551C>T
r.(?)
p.(Thr184Met)
Both (homozygous)
ACMG
pathogenic (recessive)
g.19559758C>T
g.19656445C>T
-
-
ALDH3A2_000017
-
PubMed: Hu 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
ID
M8600492
PubMed: Hu 2019
family, 2 affected individuals
-
-
Iran
Persia
-
-
-
-
2
Johan den Dunnen
+/+
-
c.554G>C
r.(?)
p.(Gly185Ala)
Parent #2
-
pathogenic
g.19559761G>C
g.19656448G>C
-
-
ALDH3A2_000076
-
PubMed: Rizzo 2008
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Rizzo 2008
-
M
-
United States
-
-
-
-
-
1
Maximilian Weustenfeld
-?/.
-
c.563C>T
r.(?)
p.(Ala188Val)
Unknown
-
likely benign
g.19559770C>T
-
ALDH3A2(NM_000382.3):c.563C>T (p.A188V)
-
ALDH3A2_000133
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
4
c.619dup
r.(?)
p.(Glu207Glyfs*11)
Paternal (confirmed)
-
pathogenic
g.19559826dup
g.19656513dup
c.619_620insG
-
ALDH3A2_000007
-
PubMed: Sarret 2012
;
Journal: Darret 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sarret 2012
;
Journal: Darret 2012
-
F
no
France
-
-
-
-
-
1
Maximilian Weustenfeld
+/.
-
c.628G>A
r.(?)
p.(Gly210Arg)
Both (homozygous)
-
pathogenic (recessive)
g.19559835G>A
g.19656522G>A
-
-
ALDH3A2_000129
-
PubMed: Makrythanasis 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
Family_46
PubMed: Makrythanasis 2014
family, 2 affected
-
yes
Jordan
-
-
-
-
-
2
Johan den Dunnen
+?/+
4
c.631A>G
r.(?)
p.(Lys211Glu)
Both (homozygous)
-
likely pathogenic
g.19559838A>G
g.19656525A>G
-
-
ALDH3A2_000083
-
PubMed: Kariminejad 2017
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Kariminejad 2017
-
M
yes
Iran
-
-
-
-
anticonvulsants
1
Maximilian Weustenfeld
+?/+
4
c.636T>G
r.(?)
p.(Ser212Arg)
Maternal (confirmed)
-
likely pathogenic
g.19559843T>G
g.19656530T>G
636T>G
-
ALDH3A2_000036
affected serine residue at codon 212 is conserved among several species
PubMed: Sakai 2006
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sakai 2006
-
F
no
Japan
-
-
-
-
-
1
Maximilian Weustenfeld
+/+
-
c.641G>A
r.(?)
p.(Cys214Tyr)
Both (homozygous)
-
pathogenic
g.19559848G>A
g.19656535G>A
-
-
ALDH3A2_000073
-
PubMed: De Laurenzi 1996
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
SLS
-
PubMed: De Laurenzi 1996
-
M
yes
Egypt
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
4
c.648_649insAT
r.(?)
p.(Asp217Metfs*14)
Both (homozygous)
-
likely pathogenic
g.19559855_19559856insAT
g.19656542_19656543insAT
c.648_649insAT
-
ALDH3A2_000009
-
PubMed: Sarret 2012
;
Journal: Sarret 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sarret 2012
;
Journal: Sarret 2012
-
M
yes
Tunisia
-
-
-
-
-
1
Maximilian Weustenfeld
?/.
-
c.651T>G
r.(?)
p.(Asp217Glu)
Unknown
-
VUS
g.19559858T>G
g.19656545T>G
ALDH3A2(NM_001031806.1):c.651T>G (p.D217E)
-
ALDH3A2_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+
-
c.678C>G
r.(?)
p.(Cys226Trp)
Both (homozygous)
-
likely pathogenic
g.19559885C>G
g.19656572C>G
-
-
ALDH3A2_000068
-
PubMed: Sillen 1998
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
SLS
-
PubMed: Sillen 1998
-
?
yes
Sweden
-
-
-
-
-
1
Maximilian Weustenfeld
+/+?
-
c.680+1G>A
r.spl?
p.?
Paternal (confirmed)
-
pathogenic
g.19559888G>A
g.19656575G>A
-
-
ALDH3A2_000113
-
PubMed: Jain 2015
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Jain 2015
patients 3 and 4 are brothers
M
yes
(India)
-
-
-
-
-
1
Maximilian Weustenfeld
+/+?
-
c.680+1G>A
r.spl?
p.?
Paternal (confirmed)
-
pathogenic
g.19559888G>A
g.19656575G>A
-
-
ALDH3A2_000113
-
PubMed: Jain 2015
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Jain 2015
patients 3 and 4 are brothers
M
yes
(India)
-
-
-
-
-
1
Maximilian Weustenfeld
-/.
-
c.681-37_681-30del
r.(=)
p.(=)
Unknown
-
benign
g.19561021_19561028del
g.19657708_19657715del
ALDH3A2(NM_001031806.2):c.681-37_681-30delCTGAATTA
-
ALDH3A2_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+
-
c.681-14T>C
r.(=)
p.(=)
Both (homozygous)
-
likely pathogenic
g.19561044T>C
g.19657731T>C
c.681-14T>C
-
ALDH3A2_000018
-
PubMed: Burgueno-Montanés 2014
-
-
Germline
-
-
-
-
-
DNA
?
-
-
SLS
-
PubMed: Burgueno-Montanés 2014
probably consanguinity
M
?
(Spain)
-
-
-
-
-
1
Maximilian Weustenfeld
-?/.
-
c.681-9dup
r.(=)
p.(=)
Unknown
-
likely benign
g.19561049dup
-
ALDH3A2(NM_000382.3):c.681-9dup
-
ALDH3A2_000136
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
5
c.682C>T
r.(?)
p.(Arg228Cys)
Both (homozygous)
-
pathogenic
g.19561059C>T
g.19657746C>T
c.682C>T
-
ALDH3A2_000038
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
-
-
Germline
-
-
-
-
-
DNA
PCR, PCRdig
-
-
SLS
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
Patients 1-6 of this paper are siblings
F
yes
Israel
Arab
-
-
-
-
1
Maximilian Weustenfeld
+/+
5
c.682C>T
r.(?)
p.(Arg228Cys)
Both (homozygous)
-
pathogenic
g.19561059C>T
g.19657746C>T
c.682C>T
-
ALDH3A2_000038
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
-
-
Germline
-
-
-
-
-
DNA
PCR, PCRdig
-
-
SLS
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
Patients 1-6 of this paper are siblings
M
yes
Israel
Arab
-
-
-
-
1
Maximilian Weustenfeld
+/+
5
c.682C>T
r.(?)
p.(Arg228Cys)
Both (homozygous)
-
pathogenic
g.19561059C>T
g.19657746C>T
c.682C>T
-
ALDH3A2_000038
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
-
-
Germline
-
-
-
-
-
DNA
PCR, PCRdig
-
-
SLS
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
Patients 1-6 of this paper are siblings
F
yes
Israel
Arab
-
-
-
-
1
Maximilian Weustenfeld
+/+
5
c.682C>T
r.(?)
p.(Arg228Cys)
Both (homozygous)
-
pathogenic
g.19561059C>T
g.19657746C>T
c.682C>T
-
ALDH3A2_000038
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
-
-
Germline
-
-
-
-
-
DNA
PCR, PCRdig
-
-
SLS
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
Patients 1-6 of this paper are siblings
F
yes
Israel
Arab
-
-
-
-
1
Maximilian Weustenfeld
+/+
5
c.682C>T
r.(?)
p.(Arg228Cys)
Both (homozygous)
-
pathogenic
g.19561059C>T
g.19657746C>T
c.682C>T
-
ALDH3A2_000038
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
-
-
Germline
-
-
-
-
-
DNA
PCR, PCRdig
-
-
SLS
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
Patients 1-6 of this paper are siblings
M
yes
Israel
Arab
-
-
-
-
1
Maximilian Weustenfeld
+/+
5
c.682C>T
r.(?)
p.(Arg228Cys)
Both (homozygous)
-
pathogenic
g.19561059C>T
g.19657746C>T
c.682C>T
-
ALDH3A2_000038
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
-
-
Germline
-
-
-
-
-
DNA
PCR, PCRdig
-
-
SLS
-
PubMed: Lossos 2006
,
Journal: Lossos 2006
Patients 1-6 of this paper are siblings
M
yes
Israel
Arab
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.682C>T
r.(?)
p.(Arg228Cys)
Both (homozygous)
-
likely pathogenic
g.19561059C>T
g.19657746C>T
c.682C>T
-
ALDH3A2_000038
-
PubMed: Shamriz 2016
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Shamriz 2016
-
M
-
Israel
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.682C>T
r.(?)
p.(Arg228Cys)
Both (homozygous)
-
likely pathogenic
g.19561059C>T
g.19657746C>T
c.682C>T
-
ALDH3A2_000038
-
PubMed: Shamriz 2016
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Shamriz 2016
-
M
yes
Israel
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+
-
c.682C>T
r.(?)
p.(Arg228Cys)
Unknown
-
likely pathogenic
g.19561059C>T
g.19657746C>T
c.682T>A ?!!!
-
ALDH3A2_000038
Submitter assumes that it should be c.682C>T (= a known mutation). Published was "c.682T>A"! (probably a mistake because there is no T at position 682)
PubMed: Hidalgo 2017
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Hidalgo 2017
-
M
?
United States
-
-
-
-
-
1
Maximilian Weustenfeld
+?/+?
-
c.682C>T
r.(?)
p.(Arg228Cys)
Both (homozygous)
-
likely pathogenic
g.19561059C>T
g.19657746C>T
-
-
ALDH3A2_000038
-
*
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
-
-
F
-
-
-
-
-
-
-
1
Maximilian Weustenfeld
+?/.
-
c.682C>T
r.(?)
p.(Arg228Cys)
Unknown
-
likely pathogenic
g.19561059C>T
g.19657746C>T
-
-
ALDH3A2_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.682C>T
r.(?)
p.(Arg228Cys)
Unknown
ACMG
likely pathogenic
g.19561059C>T
-
-
-
ALDH3A2_000038
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
-
c.682C>T
r.(?)
p.(Arg228Cys)
Both (homozygous)
-
likely pathogenic
g.19561059C>T
g.19657746C>T
c.682C>T, p.(Arg228Cys)
-
ALDH3A2_000038
homozygous
PubMed: Abu Diab 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, arraySNP, SEQ
blood
whole exome sequencing, SNP array homozygosity mapping
retinal disease
MOL1592 II:5
PubMed: Abu Diab 2019
-
F
yes
Israel
Arabic
-
-
-
-
1
LOVD
+?/.
-
c.682C>T
r.(?)
p.(Arg228Cys)
Both (homozygous)
-
likely pathogenic
g.19561059C>T
g.19657746C>T
ALDH3A2 c.682C>T, (p.Arg228Cys)
-
ALDH3A2_000038
homozygous
PubMed: Alabdullatif 2017
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
-
-
retinal disease
186
PubMed: Alabdullatif 2017
-
F
yes
United Arab Emirates
-
-
-
-
-
1
LOVD
+?/+
5
c.683G>A
r.(?)
p.(Arg228His)
Both (homozygous)
-
likely pathogenic
g.19561060G>A
g.19657747G>A
CGC>CAC in codon 228
-
ALDH3A2_000021
-
PubMed: Yis 2012
-
-
Germline
-
-
-
-
-
DNA
?
-
-
SLS
-
PubMed: Yis 2012
-
F
yes
Turkey
-
-
-
-
"multiple antiepileptic medications"
1
Maximilian Weustenfeld
+/+?
-
c.683G>A
r.(?)
p.(Arg228His)
Both (homozygous)
-
pathogenic
g.19561060G>A
g.19657747G>A
-
-
ALDH3A2_000021
-
PubMed: Vural 2018
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Vural 2018
-
M
yes
(Germany)
-
-
-
-
oral Acitretin + topical emolients
1
Maximilian Weustenfeld
+/+?
-
c.683G>A
r.(?)
p.(Arg228His)
Both (homozygous)
-
pathogenic
g.19561060G>A
g.19657747G>A
-
-
ALDH3A2_000021
-
PubMed: Vural 2018
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Vural 2018
-
M
yes
(Germany)
-
-
-
-
oral Acitretin + topical emolients
1
Maximilian Weustenfeld
+/+?
-
c.683G>A
r.(?)
p.(Arg228His)
Both (homozygous)
-
pathogenic
g.19561060G>A
g.19657747G>A
-
-
ALDH3A2_000021
-
PubMed: Vural 2018
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Vural 2018
-
M
yes
(Germany)
-
-
-
-
oral Acitretin + topical emolients
1
Maximilian Weustenfeld
+/+?
-
c.683G>A
r.(?)
p.(Arg228His)
Both (homozygous)
-
pathogenic
g.19561060G>A
g.19657747G>A
-
-
ALDH3A2_000021
-
PubMed: Vural 2018
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Vural 2018
-
F
yes
(Germany)
-
-
-
-
oral Acitretin + topical emolients
1
Maximilian Weustenfeld
+/+?
-
c.683G>A
r.(?)
p.(Arg228His)
Both (homozygous)
-
pathogenic
g.19561060G>A
g.19657747G>A
-
-
ALDH3A2_000021
-
PubMed: Vural 2018
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
SLS
-
PubMed: Vural 2018
-
M
yes
(Germany)
-
-
-
-
oral Acitretin + topical emolients
1
Maximilian Weustenfeld
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