Global Variome shared LOVD
RDH12 (retinol dehydrogenase 12 (all-trans/9-cis/1...))
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Global Variome, with Curator vacancy
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_152443.2 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
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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868 entries on 9 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
+?/.
-
146C>T
r.(?)
p.(Thr49Met)
Parent #1
-
likely pathogenic
g.68191267C>T
g.67724550C>T
RDH12 146C->T, T49M
-
RDH12_000001
heterozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
33
PubMed: Janecke 2004
American
F
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
184C>T
r.(?)
p.(Arg62*)
Parent #2
-
likely pathogenic
g.68191305C>T
g.67724588C>T
RDH12 184C->T, R62X
-
RDH12_000002
heterozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
33
PubMed: Janecke 2004
American
F
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
565C>T
r.(?)
p.(Gln189*)
Both (homozygous)
-
likely pathogenic
g.68193814C>T
g.67727097C>T
RDH12 565C->T, Q189X
-
RDH12_000003
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
839
PubMed: Janecke 2004
Turkish proband
M
-
Turkey
-
-
-
-
-
1
LOVD
+?/.
-
565C>T
r.(?)
p.(Gln189*)
Both (homozygous)
-
likely pathogenic
g.68193814C>T
g.67727097C>T
RDH12 565C->T, Q189X
-
RDH12_000003
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
?
PubMed: Janecke 2004
Turkish proband's sister
F
-
Turkey
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
1_X-1
PubMed: Janecke 2004
family 1, individual X-1
F
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
1_X-2
PubMed: Janecke 2004
family 1, individual X-2
F
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
1_X-3
PubMed: Janecke 2004
family 1, individual X-3
M
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
1_X-4
PubMed: Janecke 2004
family 1, individual X-4
F
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
1_X-5
PubMed: Janecke 2004
family 1, individual X-5
M
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
2_VI-4
PubMed: Janecke 2004
family 2, individual VI-4
M
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
2_VI-6
PubMed: Janecke 2004
family 2, individual VI-6
M
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
2_VI-8
PubMed: Janecke 2004
family 2, individual VI-8
F
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
2_VI-11
PubMed: Janecke 2004
family 2, individual VI-11
F
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
2_VIII-2
PubMed: Janecke 2004
family 2, individual VIII-2
M
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
3_IX-1
PubMed: Janecke 2004
family 3, individual IX-1
M
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
3_IX-3
PubMed: Janecke 2004
family 3, individual IX-3
M
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
3_IX-5
PubMed: Janecke 2004
family 3, individual IX-5
F
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
3_X-2
PubMed: Janecke 2004
family 3, individual X-2
F
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
677A>G
r.(?)
p.(Tyr226Cys)
Both (homozygous)
-
likely pathogenic
g.68195926A>G
g.67729209A>G
RDH12 677A->G, Y226C
-
RDH12_000004
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
3_IX-12
PubMed: Janecke 2004
family 3, individual IX-12
F
-
Austria
-
-
-
-
-
1
LOVD
+?/.
-
806delCCCTG
r.(?)
p.(Ala269Glyfs*2)
Both (homozygous)
-
likely pathogenic
g.68196055_68196059del
g.67729338_67729342del
RDH12 806delCCCTG, Y226C
-
RDH12_000005
homozygous
PubMed: Janecke 2004
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
828
PubMed: Janecke 2004
German proband
M
-
Germany
-
-
-
-
-
1
LOVD
+?/+?
-
c.?
r.?
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
Y194X
-
SERPINA1_000009
-
PubMed: Jacobson 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Jacobson 2007
p1 y P2 same family
-
-
-
-
-
-
-
-
1
Julia Lopez
+?/+?
-
c.?
r.?
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
Y194X
-
SERPINA1_000009
-
PubMed: Jacobson 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Jacobson 2007
p1 y P2 same family
-
-
-
-
-
-
-
-
1
Julia Lopez
+?/+?
-
c.?
r.?
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
R295X
-
SERPINA1_000009
-
PubMed: Jacobson 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Jacobson 2007
-
-
-
-
-
-
-
-
-
1
Julia Lopez
+/.
5
c.?
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.68191924C>A
-
c.296C>A
-
SERPINA1_000009
-
PubMed: Beryozkin-2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Beryozkin-2014
-
-
yes
Morocco
Morocco;Jewish
-
-
-
-
2
LOVD
+?/.
-
c.?
r.0?
p.0?
Unknown
-
likely pathogenic
g.68176483_68197327del
-
chr14:g.68176483_68197327del
-
SERPINA1_000009
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G009840
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
-
-
-
-
-
-
1
LOVD
+?/.
1
c.2T>C
r.(?)
p.(Met1?)
Maternal (confirmed)
-
likely pathogenic
g.68189361T>C
g.67722644T>C
RDH12 c.2T>C, p.M1?
-
RDH12_000139
heterozygous
PubMed: Thompson 2005
-
-
Germline
yes
-
-
-
-
DNA
DHPLC, SEQ
blood
-
retinal disease
261
PubMed: Thompson 2005
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.2T>C
r.0?
p.(Met1?)
Parent #2
-
likely pathogenic (dominant)
g.68189361T>C
g.67722644T>C
RDH12 M1?
-
RDH12_000139
heterozygous
PubMed: Valverde 2009
-
-
Unknown
?
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
S261
PubMed: Valverde 2009
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.38C>A
r.(?)
p.(Ser13*)
Both (homozygous)
-
likely pathogenic
g.68189397C>A
g.67722680C>A
RDH12 c.38C>A, Ser13X
-
RDH12_000159
homozygous
PubMed: Fahim 2019
-
-
Unknown
?
-
-
-
-
RNA
RT-PCR, SEQ
blood
-
retinal disease
20
PubMed: Fahim 2019
-
M
-
United States
-
-
-
-
-
1
LOVD
?/.
-
c.59C>T
r.(?)
p.(Pro20Leu)
Unknown
-
VUS
g.68189418C>T
g.67722701C>T
-
-
RDH12_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.63_66del
r.(?)
p.(Ile22Glyfs*19)
Unknown
-
pathogenic
g.68189422_68189425del
g.67722705_67722708del
-
-
RDH12_000011
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
-
RP
-
-
-
-
-
(United States)
-
-
-
-
-
1
Feng Wang
+/.
3
c.63_66del
r.(?)
p.(Ile22Glyfs*19)
Unknown
-
pathogenic
g.68189422_68189425del
-
c.63_66del
-
RDH12_000011
-
PubMed: Wang-2014
-
-
Unknown
-
-
-
-
-
DNA
PCR, SEQ-NG
blood or a saliva sample
-
retinal disease
-
PubMed: Wang-2014
-
-
no
-
-
-
-
-
-
1
LOVD
+?/.
-
c.63_66del
r.(?)
p.(Ile22Glyfs*19)
Parent #2
-
likely pathogenic
g.68189422_68189425del
g.67722705_67722708del
RDH12 c.57_60del, p.P20del
-
RDH12_000011
error in annotation, 3' nucleotide and first affected amino acid rule shift it to c.63_66del, p.I22GfsX19; heterozygous
PubMed: Mackay 2011
-
-
Unknown
?
-
-
-
-
DNA
arraySNP, SEQ
blood
method of identification: Asper chip
retinal disease
9
PubMed: Mackay 2011
-
?
no
-
white
-
-
-
-
1
LOVD
+?/.
-
c.63_66del
r.(?)
p.(Ile22Glyfs*19)
Parent #1
-
likely pathogenic
g.68189422_68189425del
g.67722705_67722708del
RDH12 lIe22Gly
-
RDH12_000011
no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in databases lIe22Gly is described as ""this sequence change creates a premature translational stop signal (p.Ile22Glyfs*19)"", and points to c.63_66del; heterozygous
PubMed: Aleman 2018
-
-
Unknown
?
-
-
-
-
DNA
?
saliva
-
retinal disease
P10
PubMed: Aleman 2018
-
F
-
-
Scottish
-
-
-
-
1
LOVD
+?/.
-
c.63_66del
r.(?)
p.(Ile22Glyfs*19)
Parent #1
-
likely pathogenic
g.68189422_68189425del
g.67722705_67722708del
RDH12 c.57_60delTCCA, Ala19fs
-
RDH12_000011
error in annotation, most 3' rule shifts it to c.63_66del, Ile22Glyfs*19; single heterozygous variant
PubMed: Fahim 2019
-
-
Unknown
?
-
-
-
-
RNA
RT-PCR, SEQ
blood
-
retinal disease
25
PubMed: Fahim 2019
-
F
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.68+1G>A
r.spl
p.?
Parent #1
-
likely pathogenic
g.68189428G>A
g.67722711G>A
c.68 + 1G > A NA
-
RDH12_000080
-
PubMed: Wang 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
Fam35
PubMed: Wang 2016
family, 1 affected, unaffected heterozygous carrier parents/relatives
-
-
China
Han
-
-
-
-
1
LOVD
+/.
-
c.68+1G>A
r.spl
p.(?)
Parent #1
ACMG
pathogenic
g.68189428G>A
g.67722711G>A
RDH12 NM_152443: g.20826G>A, c.68+1G>A
-
RDH12_000080
-
PubMed: Xu 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
targeted next-generation sequencing
retinal disease
67190
PubMed: Xu 2020
-
?
no
China
-
-
-
-
-
1
LOVD
-/.
-
c.69-19_69-18del
r.(=)
p.(=)
Unknown
-
benign
g.68191171_68191172del
g.67724454_67724455del
RDH12(NM_152443.3):c.69-19_69-18delTT
-
RDH12_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.85G>A
r.(?)
p.(Gly29Arg)
Unknown
-
VUS
g.68191206G>A
g.67724489G>A
RDH12(NM_152443.3):c.85G>A (p.G29R)
-
RDH12_000049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.91T>C
r.(?)
p.(Cys31Arg)
Unknown
-
VUS
g.68191212T>C
g.67724495T>C
RDH12(NM_152443.2):c.91T>C (p.C31R)
-
RDH12_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2
c.99_102dupAAAT
r.(?)
p.(Val35Lysfs*28)
Maternal (confirmed)
-
likely pathogenic
g.68191220_68191223dup
g.67724503_67724506dup
RDH12 c.99_102dupAAAT, p.Val35LysfsX27
-
RDH12_000140
reduced ability to convert all-trans retinal to all-trans retinol in the presence of NADPH , heterozygous
PubMed: Thompson 2005
-
-
Germline
yes
-
-
-
-
DNA
DHPLC, SEQ
blood
-
retinal disease
237
PubMed: Thompson 2005
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.99_102dupAAAT
r.(?)
p.(Val35Lysfs*28)
Parent #2
-
likely pathogenic (dominant)
g.68191220_68191223dup
g.67724503_67724506dup
RDH12 c.99_102dupAAAT
-
RDH12_000140
heterozygous
PubMed: Valverde 2009
-
-
Unknown
?
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
B237 (04-13)
PubMed: Valverde 2009
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.121G>T
r.(?)
p.(Val41Leu)
Unknown
-
likely pathogenic
g.68191242G>T
g.67724525G>T
-
-
RDH12_000072
-
PubMed: Huang 2017
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP-62
PubMed: Huang 2017
family
-
-
China
-
-
-
-
-
1
LOVD
?/.
-
c.125T>C
r.(?)
p.(Val42Ala)
Unknown
ACMG
VUS
g.68191246T>C
g.67724529T>C
RDH12 c.125T>C; p.VaI42AIa
-
RDH12_000132
heterozygous
PubMed: Sallum 2020
-
-
Unknown
?
-
-
-
-
DNA
?
blood
224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien
retinal disease
71
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
?/.
-
c.125T>C
r.(?)
p.(Val42Ala)
Unknown
ACMG
VUS
g.68191246T>C
g.67724529T>C
RDH12 c.12ST>C; p.VaI42AIa
-
RDH12_000132
heterozygous
PubMed: Sallum 2020
-
-
Unknown
?
-
-
-
-
DNA
?
blood
224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien
retinal disease
71
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
+/.
-
c.133A>G
r.(?)
p.(Thr45Ala)
Unknown
-
pathogenic
g.68191254A>G
g.67724537A>G
-
-
RDH12_000078
-
PubMed: Zolnikova 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
325-gene panel
retinal disease
P005
PubMed: Zolnikova 2017
-
-
-
Russia
Russia
-
-
-
-
1
LOVD
+/.
4
c.133A>G
r.(?)
p.(Thr45Ala)
Both (homozygous)
-
pathogenic
g.68191254A>G
-
c.133A>G
-
RDH12_000078
-
PubMed: Eisenberger-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
blood
-
retinal disease
-
PubMed: Eisenberger-2013
-
M
no
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.133A>G
r.(?)
p.(Thr45Ala)
Parent #2
-
likely pathogenic
g.68191254A>G
g.67724537A>G
RDH12 Thr45Ala
-
RDH12_000078
no nucleotide written, extrapolated from protein and databases; heterozygous
PubMed: Aleman 2018
-
-
Unknown
?
-
-
-
-
DNA
?
saliva
-
retinal disease
P18
PubMed: Aleman 2018
-
F
-
-
German,Irish, Polish
-
-
-
-
1
LOVD
+?/.
-
c.133dup
r.(?)
p.(Thr45Asnfs*17)
Parent #1
-
likely pathogenic
g.68191254dup
g.67724537dup
133_134insA
-
RDH12_000073
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
422
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
2
c.138C>T
r.spl?
p.(Gly46=)
Unknown
-
likely pathogenic
g.68191259C>T
g.67724542C>T
RDH12 G46G
-
RDH12_000141
single heterozygous variant in a recessive disease; no second allele
PubMed: Sun 2007
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
?
PubMed: Sun 2007
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.139G>A
r.(?)
p.(Ala47Thr)
Both (homozygous)
-
likely pathogenic (recessive)
g.68191260G>A
g.67724543G>A
-
-
RDH12_000065
-
PubMed: Taylor 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
15007408
PubMed: Taylor 2017
no family history retinal disease
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+?/.
-
c.139G>A
r.(?)
p.(Ala47Thr)
Parent #1
-
likely pathogenic
g.68191260G>A
g.67724543G>A
-
-
RDH12_000065
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
10DG1939
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/.
-
c.139G>A
r.(?)
p.(Ala47Thr)
Unknown
-
likely pathogenic
g.68191260G>A
g.67724543G>A
-
-
RDH12_000065
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
11DG2422
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/.
-
c.139G>A
r.(?)
p.(Ala47Thr)
Unknown
-
likely pathogenic
g.68191260G>A
g.67724543G>A
-
-
RDH12_000065
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
12DG0773
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/+?
4
c.139G>A
r.(?)
p.(Ala47Thr)
Unknown
-
likely pathogenic (recessive)
g.68191260G>A
-
A47T
-
RDH12_000065
-
PubMed: Jacobson 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Jacobson 2007
-
-
-
-
-
-
-
-
-
1
Julia Lopez
?/.
4
c.139G>A
r.(?)
p.(Ala47Thr)
Both (homozygous)
-
VUS
g.68191260G>A
-
c.139G>A
-
RDH12_000065
-
PubMed: Abu-Safieh-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
autozygome-guided sequencing
retinal disease
-
PubMed: Abu-Safieh-2013
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
?/.
4
c.139G>A
r.(?)
p.(Ala47Thr)
Both (homozygous)
-
VUS
g.68191260G>A
-
c.139G>A
-
RDH12_000065
-
PubMed: Abu-Safieh-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
autozygome-guided sequencing
retinal disease
-
PubMed: Abu-Safieh-2013
-
-
-
Saudi Arabia
-
-
-
-
-
3
LOVD
+/.
-
c.139G>A
r.(?)
p.(Ala47Thr)
Parent #2
ACMG
pathogenic
g.68191260G>A
g.67724543G>A
RDH12 NM_152443: g.22658G>A, c.139G>A, p.A47T
-
RDH12_000065
-
PubMed: Xu 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
targeted next-generation sequencing
retinal disease
19269
PubMed: Xu 2020
-
?
no
China
-
-
-
-
-
1
LOVD
+?/.
4
c.139G>A
r.(?)
p.(Ala47Thr)
Both (homozygous)
-
likely pathogenic
g.68191260G>A
g.67724543G>A
RDH12:NM_152443:exon4:c.139G>A:p.A47T
-
RDH12_000065
homozygous
PubMed: Chen 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
F21-IV-2
PubMed: Chen 2020
-
F
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
-
c.139G>A
r.(?)
p.(Ala47Thr)
Both (homozygous)
-
likely pathogenic
g.68191260G>A
g.67724543G>A
RDH12 c.139G>A p.(Ala47Thr)
-
RDH12_000065
homozygous
PubMed: Méjécase 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
retrospective case note review, targeted gene panel testing
retinal disease
5
{PMID:Méjécase 2020:3278337
-
?
-
United Arab Emirates
-
-
-
-
-
1
LOVD
+?/.
4
c.139G>A
r.(?)
p.(Ala47Thr)
Unknown
-
likely pathogenic (recessive)
g.68191260G>A
-
c.139G>A
-
RDH12_000065
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
2
c.139G>A
r.(?)
p.(Ala47Thr)
Paternal (confirmed)
-
likely pathogenic
g.68191260G>A
g.67724543G>A
RDH12 c.139G>A, p.A47T
-
RDH12_000065
heterozygous
PubMed: Thompson 2005
-
-
Germline
yes
-
-
-
-
DNA
DHPLC, SEQ
blood
-
retinal disease
3069
PubMed: Thompson 2005
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.139G>A
r.(?)
p.(Ala47Thr)
Both (homozygous)
-
likely pathogenic
g.68191260G>A
g.67724543G>A
RDH12 c.139G>A; p.Ala47Thr
-
RDH12_000065
homozygous
PubMed: AlBakri 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
Subject 1
PubMed: AlBakri 2015
Family 1, subject 1 (proband)
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.139G>A
r.(?)
p.(Ala47Thr)
Both (homozygous)
-
likely pathogenic
g.68191260G>A
g.67724543G>A
RDH12 c.139G>A; p.Ala47Thr
-
RDH12_000065
homozygous
PubMed: AlBakri 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
Subject 2
PubMed: AlBakri 2015
Family 1, subject 2 (proband's sister)
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.139G>A
r.(?)
p.(Ala47Thr)
Parent #1
-
likely pathogenic
g.68191260G>A
g.67724543G>A
RDH12 c.139G>A, Ala47Thr
-
RDH12_000065
heterozygous
PubMed: Fahim 2019
-
-
Unknown
?
-
-
-
-
RNA
RT-PCR, SEQ
blood
-
retinal disease
27
PubMed: Fahim 2019
-
F
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.146C>A
r.(?)
p.(Thr49Lys)
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.68191267C>A
g.67724550C>A
c.C146A
-
RDH12_000079
-
PubMed: Zhang 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
226-gene panel
retinal disease
BLM012
PubMed: Zhang 2016
family
F
-
United States
Hispanic
-
-
-
-
1
LOVD
+?/.
-
c.146C>A
r.(?)
p.(Thr49Lys)
Both (homozygous)
-
likely pathogenic
g.68191267C>A
g.67724550C>A
RDH12 c.146C>A, p.T49K
-
RDH12_000079
homozygous
PubMed: Mackay 2011
-
-
Unknown
?
-
-
-
-
DNA
arraySNP, SEQ
blood
method of identification: Asper chip
retinal disease
7
PubMed: Mackay 2011
-
?
no
United Kingdom (Great Britain)
white
-
-
-
-
1
LOVD
+/.
2
c.146C>T
r.(?)
p.(Thr49Met)
Both (homozygous)
-
pathogenic (recessive)
g.68191267C>T
g.67724550C>T
-
-
RDH12_000003
-
PubMed: Yücelyilmaz 2014
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
LCA
FamA
PubMed: Yücelyilmaz 2014
2-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents
F;M
yes
Turkey
Turkish
-
-
-
-
5
Didem Yücel Yılmaz
+?/.
2
c.146C>T
r.(?)
p.(Thr49Met)
Both (homozygous)
-
likely pathogenic
g.68191267C>T
g.67724550C>T
-
-
RDH12_000003
-
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LCA
-
Sharon, submitted
-
F
yes
Israel
Arab-Muslim
-
-
-
-
8
Dror Sharon
+/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Parent #1
-
pathogenic
g.68191267C>T
g.67724550C>T
-
-
RDH12_000003
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
Peripheral blood
-
retinal disease
-
-
-
M
-
-
-
-
-
-
-
1
Marta de Castro-Miró
+/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Parent #1
-
pathogenic
g.68191267C>T
g.67724550C>T
-
-
RDH12_000003
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs28940314
Germline
-
1/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Unknown
ACMG
likely pathogenic
g.68191267C>T
-
-
-
RDH12_000003
-
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.146C>T
r.(?)
p.(Thr49Met)
Both (homozygous)
-
pathogenic
g.68191267C>T
g.67724550C>T
T49M
-
RDH12_000003
-
PubMed: Sanchez-Alcudia 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
RP-0184PatVII1
PubMed: Sanchez-Alcudia 2014
-
M
-
Spain
-
-
-
-
-
1
LOVD
+/.
4
c.146C>T
r.(?)
p.(Thr49Met)
Unknown
ACMG
pathogenic
g.68191267C>T
g.67724550C>T
NM_152443.2:c.146C>T, NP_689656.2:p.(Thr49Met), NC_000014.8:g.68191267C>T
-
RDH12_000003
-
PubMed: Wang 2018
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
-
panel of 441 hereditary eye disease genes including 291 genes related to IRD
retinal disease
2016060111
PubMed: Wang 2018
-
M
?
China
Han Chinese
-
-
-
-
1
LOVD
+/.
4
c.146C>T
r.(?)
p.(Thr49Met)
Unknown
-
pathogenic
g.68191267C>T
-
c.146C>T
-
RDH12_000003
-
PubMed: Wang-2013
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Wang-2013
-
-
no
-
-
-
-
-
-
1
Julia Lopez
+/.
4
c.146C>T
r.(?)
p.(Thr49Met)
Unknown
-
pathogenic
g.68191267C>T
-
c.146C>T
-
RDH12_000003
-
PubMed: Wang-2013
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Wang-2013
-
-
no
-
-
-
-
-
-
1
Julia Lopez
+/.
4
c.146C>T
r.(?)
p.(Thr49Met)
Both (homozygous)
-
pathogenic
g.68191267C>T
-
c.146C>T
-
RDH12_000003
-
PubMed: Beryozkin-2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Beryozkin-2014
-
-
yes
-
East-Jerusalem/Arab-Muslim
-
-
-
-
8
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Parent #1
-
likely pathogenic
g.68191267C>T
g.67724550C>T
RDH12, variant 1: c.146C>T/p.T49M, variant 2: c.146C>T/p.T49M
-
RDH12_000003
solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET9 targeted sequencing panel - see paper
retinal disease
920
PubMed: Weisschuh 2020
Filing key number: 393, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Parent #1
-
likely pathogenic
g.68191267C>T
g.67724550C>T
RDH12, variant 1: c.146C>T/p.T49M, variant 2: c.451C>G/p.H151D
-
RDH12_000003
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET2 targeted sequencing panel - see paper
retinal disease
1083
PubMed: Weisschuh 2020
Filing key number: 715, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Unknown
ACMG
VUS
g.68191267C>T
g.67724550C>T
RDH12 c.146C>T; p.Thr49Met
-
RDH12_000003
heterozygous
PubMed: Sallum 2020
-
-
Unknown
?
-
-
-
-
DNA
?
blood
224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien
retinal disease
70
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
+?/.
4
c.146C>T
r.(?)
p.(Thr49Met)
Unknown
-
likely pathogenic (recessive)
g.68191267C>T
-
c.146C>T
-
RDH12_000003
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
4
c.146C>T
r.(?)
p.(Thr49Met)
Both (homozygous)
-
likely pathogenic (recessive)
g.68191267C>T
-
c.146C>T
-
RDH12_000003
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Unknown
ACMG
likely pathogenic
g.68191267C>T
g.67724550C>T
RDH12 c.146C>T(;)806C>G, V1: c.146C>T, (p.Thr49Met)
-
RDH12_000003
alleles in cis or trans; heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F110
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
2
c.146C>T
r.(?)
p.(Thr49Met)
Parent #1
-
likely pathogenic
g.68191267C>T
g.67724550C>T
RDH12 T49M
-
RDH12_000003
dramatic reduction in the ability to produce all-trans-retinol from all-trans-retinal (~95% less); heterozygous
PubMed: Sun 2007
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
Patient 1
PubMed: Sun 2007
-
-
-
Italy
-
-
-
-
-
1
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Both (homozygous)
-
likely pathogenic (dominant)
g.68191267C>T
g.67724550C>T
RDH12 T49M
-
RDH12_000003
homozygous
PubMed: Valverde 2009
-
-
Unknown
?
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
M184
PubMed: Valverde 2009
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Unknown
-
likely pathogenic
g.68191267C>T
g.67724550C>T
RDH12 T49M
-
RDH12_000003
mutation significantly raises the apparent Km values of RDH12 for nucleotide cofactors; statistically significant improvement in the conversion of retinaldehyde to retinol after treatment with MG132 was observed in the cells containing T49M (but not I51N)
PubMed: Lee 2011
-
-
In vitro (cloned)
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
?
PubMed: Lee 2011
cell line
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Both (homozygous)
-
likely pathogenic
g.68191267C>T
g.67724550C>T
RDH12 c.146C>T, p.T49M
-
RDH12_000003
homozygous
PubMed: Mackay 2011
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
method of identification: Phenotype
retinal disease
23
PubMed: Mackay 2011
-
?
-
-
Gujurati Hindu
-
-
-
-
1
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Parent #2
-
likely pathogenic
g.68191267C>T
g.67724550C>T
RDH12 Thr49Met
-
RDH12_000003
no nucleotide written, extrapolated from protein and databases; heterozygous
PubMed: Aleman 2018
-
-
Unknown
?
-
-
-
-
DNA
?
saliva
-
retinal disease
P13
PubMed: Aleman 2018
-
F
-
-
German,Irish, English,Italian
-
-
-
-
1
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Parent #1
-
likely pathogenic
g.68191267C>T
g.67724550C>T
RDH12 c.146 C>T, Thr49Met
-
RDH12_000003
heterozygous
PubMed: Fahim 2019
-
-
Unknown
?
-
-
-
-
RNA
RT-PCR, SEQ
blood
-
retinal disease
4
PubMed: Fahim 2019
-
F
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Parent #1
-
likely pathogenic
g.68191267C>T
g.67724550C>T
RDH12 c.146 C>T, Thr49Met
-
RDH12_000003
single heterozygous variant
PubMed: Fahim 2019
-
-
Unknown
?
-
-
-
-
RNA
RT-PCR, SEQ
blood
-
retinal disease
30
PubMed: Fahim 2019
-
F
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Both (homozygous)
ACMG
pathogenic
g.68191267C>T
g.67724550C>T
RDH12 c.146C>T, p.Thr49Met
-
RDH12_000003
homozygous
PubMed: Scott 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
OGI1611-2841
PubMed: Scott 2020
-
M
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Both (homozygous)
ACMG
pathogenic
g.68191267C>T
g.67724550C>T
RDH12 c.146C>T, p.Thr49Met
-
RDH12_000003
homozygous
PubMed: Scott 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
OGI3077-4669
PubMed: Scott 2020
-
M
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Unknown
-
likely pathogenic
g.68191267C>T
g.67724550C>T
RDH12 c.146C>T(;)806C>G; p.(Thr49Met)
-
RDH12_000003
heterozygous
PubMed: Chen 2021
-
-
Germline/De novo (untested)
?
Taiwan Biobank: 0.000330; GnomAD_exome_East: 0.0000544; GnomAD_All: 0.0000159
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F110
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
4
c.146C>T
r.(?)
p.(Thr49Met)
Parent #1
-
pathogenic
g.68191267C>T
-
c.146C>T
-
RDH12_000003
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
F
-
-
-
-
-
-
-
1
Daan Panneman
+/.
-
c.148G>A
r.(?)
p.(Gly50Ser)
Parent #2
-
pathogenic
g.68191269G>A
g.67724552G>A
-
-
RDH12_000039
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
Peripheral blood
-
retinal disease
-
-
-
M
-
-
-
-
-
-
-
1
Marta de Castro-Miró
+/.
4
c.148G>A
r.(?)
p.(Gly50Ser)
Parent #1
ACMG
pathogenic
g.68191269G>A
g.67724552G>A
-
-
RDH12_000039
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
070804
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+?/.
4
c.151A>T
r.(?)
p.(Ile51Phe)
Both (homozygous)
ACMG
VUS (!)
g.68191272A>T
-
-
-
RDH12_000062
ACMG: PM2, PM5, PP3 class 3
-
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
LCA13;RP53
172672
-
-
M
-
-
-
-
-
-
-
1
Andreas Laner
+?/.
2
c.152T>A
r.(?)
p.(Ile51Asn)
Paternal (confirmed)
-
likely pathogenic
g.68191273T>A
g.67724556T>A
RDH12 c.152T>A, p.Ile51Asn
-
RDH12_000142
heterozygous
PubMed: Perrault 2004
-
-
Germline
yes
-
-
-
-
DNA
DHPLC, SEQ
blood
-
retinal disease
family 1, individual II-3
PubMed: Perrault 2004
family 1, individual II-3 (proband)
M
no
France
-
-
-
-
-
1
LOVD
+?/.
-
c.152T>A
r.(?)
p.(Ile51Asn)
Both (homozygous)
-
likely pathogenic
g.68191273T>A
g.67724556T>A
RDH12 I51N
-
RDH12_000142
mutation significantly raises the apparent Km values of RDH12 for nucleotide cofactors
PubMed: Lee 2011
-
-
In vitro (cloned)
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
?
PubMed: Lee 2011
cell line
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.152T>C
r.(?)
p.(Ile51Thr)
Unknown
-
likely pathogenic
g.68191273T>C
g.67724556T>C
-
-
RDH12_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.152T>C
r.(?)
p.(Ile51Thr)
Unknown
-
pathogenic
g.68191273T>C
g.67724556T>C
-
-
RDH12_000027
-
PubMed: Haer-Wigman 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
?
838
PubMed: Haer-Wigman 2017
patient
-
no
Netherlands
-
-
-
-
-
1
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