Full data view for gene RDH12

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_152443.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

dbSNP ID     

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ID_report     

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Owner     
+?/. 4 c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - likely pathogenic g.68192801C>T g.67726084C>T - - RDH12_000034 - PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL0851 PubMed: Sharon 2019 family F yes Israel Arab-Muslim - - - - 3 Dror Sharon
+/. - c.377C>T r.(?) p.(Ala126Val) Unknown - pathogenic g.68192801C>T g.67726084C>T - - RDH12_000034 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs202126574 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
+/. - c.377C>T r.(?) p.(Ala126Val) Unknown ACMG pathogenic g.68192801C>T - - - RDH12_000034 - PubMed: Sharon 2019 - - Germline - 4/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - pathogenic g.68192801C>T g.67726084C>T - - RDH12_000034 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease 57R+R.78 PubMed: Ge 2015 family - - United States - - - - - 1 LOVD
+/. - c.377C>T r.(?) p.(Ala126Val) Unknown ACMG pathogenic g.68192801C>T - - - RDH12_000034 - PubMed: Sharon 2019 - - Germline - 4/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - pathogenic (recessive) g.68192801C>T - - - RDH12_000034 - PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - 4/2420 IRD families - - - DNA SEQ - - retinal disease MOL1389 PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 family - - Israel Arab-Muslim - - - - 1 Global Variome, with Curator vacancy
+/. - c.377C>T r.(?) p.(Ala126Val) Parent #1 - pathogenic g.68192801C>T g.67726084C>T - - RDH12_000034 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6413 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.377C>T r.(?) p.(Ala126Val) Unknown - likely pathogenic g.68192801C>T g.67726084C>T c.377C>T, p.Ala126Val - RDH12_000034 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18070025_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+/. - c.377C>T r.(?) p.(Ala126Val) Parent #1 ACMG pathogenic g.68192801C>T g.67726084C>T RDH12 NM_152443: g.24199C>T, c.377C>T, p.A126V - RDH12_000034 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19280 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. 6 c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - pathogenic (recessive) g.68192801C>T - A126V/A126V - RDH12_000034 - PubMed: Benayoun-2009 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Benayoun-2009 - F yes Israel israeli - - - - 1 LOVD
+/. 6 c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - pathogenic (recessive) g.68192801C>T - A126V/A126V - RDH12_000034 - PubMed: Benayoun-2009 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Benayoun-2009 - F yes Israel israeli - - - - 1 LOVD
+/. 6 c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - pathogenic (recessive) g.68192801C>T - A126V/A126V - RDH12_000034 - PubMed: Benayoun-2009 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Benayoun-2009 - F yes Israel israeli - - - - 1 LOVD
+/. 6 c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - pathogenic (recessive) g.68192801C>T - A126V/A126V - RDH12_000034 - PubMed: Benayoun-2009 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Benayoun-2009 - M yes Israel israeli - - - - 1 LOVD
+/. 6 c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - pathogenic (recessive) g.68192801C>T - A126V/A126V - RDH12_000034 - PubMed: Benayoun-2009 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Benayoun-2009 - M yes Israel israeli - - - - 1 LOVD
+/. 6 c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - pathogenic (recessive) g.68192801C>T - A126V/A126V - RDH12_000034 - PubMed: Benayoun-2009 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Benayoun-2009 - M yes Israel israeli - - - - 1 LOVD
+/. 6 c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - pathogenic (recessive) g.68192801C>T - A126V/A126V - RDH12_000034 - PubMed: Benayoun-2009 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Benayoun-2009 - M yes Israel israeli - - - - 1 LOVD
+/. 6 c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - pathogenic (recessive) g.68192801C>T - A126V/A126V - RDH12_000034 - PubMed: Benayoun-2009 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Benayoun-2009 - F yes Israel israeli - - - - 1 LOVD
+/. 6 c.377C>T r.(?) p.(Ala126Val) Unknown - pathogenic (recessive) g.68192801C>T - A126V/wt - RDH12_000034 - PubMed: Benayoun-2009 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Benayoun-2009 - M yes Israel israeli - - - - 1 LOVD
+?/. - c.377C>T r.(?) p.(Ala126Val) Unknown ACMG likely pathogenic g.68192801C>T g.67726084C>T RDH12 c.C377T, p.A126V - RDH12_000034 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 91 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 6 c.377C>T r.(?) p.(Ala126Val) Unknown - likely pathogenic (recessive) g.68192801C>T - c.377C>T - RDH12_000034 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.377C>T r.(?) p.(Ala126Val) Unknown ACMG likely pathogenic g.68192801C>T g.67726084C>T RDH12 c.377C>T(;)505C>G, V1: c.377C>T, (p.Ala126Val) - RDH12_000034 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F293 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - likely pathogenic g.68192801C>T g.67726084C>T RDH12 c.377C>T, (A126V) - RDH12_000034 homozygous PubMed: Kuniyoshi 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient 1 PubMed: Kuniyoshi 2014 family kinki-F18, individual kinki-1044 F - Japan - - - - - 1 LOVD
+?/. - c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - likely pathogenic g.68192801C>T g.67726084C>T RDH12 c.377C>T, (A126V) - RDH12_000034 homozygous PubMed: Kuniyoshi 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient 2 PubMed: Kuniyoshi 2014 family kinki-F18, individual kinki-1045 M - Japan - - - - - 1 LOVD
+?/. - c.377C>T r.(?) p.(Ala126Val) Both (homozygous) - likely pathogenic g.68192801C>T g.67726084C>T RDH12 c.377C>T, (A126V) - RDH12_000034 homozygous PubMed: Kuniyoshi 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient 3 PubMed: Kuniyoshi 2014 family kinki-F33, individual kinki-1076 F - Japan - - - - - 1 LOVD
+?/. - c.377C>T r.(?) p.(Ala126Val) Parent #2 - likely pathogenic g.68192801C>T g.67726084C>T RDH12 Ala126Val - RDH12_000034 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P7 PubMed: Aleman 2018 - M - - Iranian, Pakistani,Indian - - - - 1 LOVD
+?/. - c.377C>T r.(?) p.(Ala126Val) Parent #1 - likely pathogenic g.68192801C>T g.67726084C>T RDH12 c.377 C>T, Ala126Val - RDH12_000034 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 2 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.377C>T r.(?) p.(Ala126Val) Parent #2 - likely pathogenic g.68192801C>T g.67726084C>T RDH12 c.377 C>T, Ala126Val - RDH12_000034 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 18 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.377C>T r.(?) p.(Ala126Val) Unknown - likely pathogenic g.68192801C>T g.67726084C>T RDH12 c.377C>T(;)505C>G; p.(Ala126Val) - RDH12_000034 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0.0000544; GnomAD_All: 0.0000119 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F293 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. 6 c.377C>T r.(?) p.(Ala126Val) Both (homozygous) ACMG pathogenic g.68192801C>T g.67726084C>T - - RDH12_000034 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072784 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 6 c.377C>T r.(?) p.(Ala126Val) Both (homozygous) ACMG pathogenic g.68192801C>T g.67726084C>T - - RDH12_000034 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 075151 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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