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.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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Owner     
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #1 - likely pathogenic (recessive) g.68200497C>T g.67733780C>T - - RDH12_000067 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 14003957 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #2 - likely pathogenic g.68200497C>T g.67733780C>T - - RDH12_000067 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 421 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
?/. - c.883C>T r.(?) p.(Arg295Ter) Parent #2 - VUS g.68200497C>T g.67733780C>T - - RDH12_000067 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 158 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/. 9 c.883C>T r.(?) p.(Arg295*) Both (homozygous) - likely pathogenic g.68200497C>T - c.883C>T - RDH12_000067 Check also: Thompson 2005 PubMed: Avela 2019 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+?/. 7 c.883C>T r.(?) p.(Arg295*) Maternal (confirmed) - likely pathogenic g.68200497C>T g.67733780C>T RDH12 c.883C>T, p.R295X - RDH12_000067 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 1047 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #2 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 c.883C>T, p.R295X - RDH12_000067 heterozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA arraySNP, SEQ blood method of identification: Asper chip retinal disease 1 PubMed: Mackay 2011 - ? no United Kingdom (Great Britain) white - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #1 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 Arg295Stop - RDH12_000067 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P8 PubMed: Aleman 2018 - M - - German,Irish, Czech - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Both (homozygous) - likely pathogenic g.68200497C>T g.67733780C>T RDH12 Arg295Stop - RDH12_000067 no nucleotide written, extrapolated from protein and databases; homozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P12 PubMed: Aleman 2018 - F - - Mexican - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #1 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 Arg295Stop - RDH12_000067 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P14 PubMed: Aleman 2018 - F - - German,Irish, Czech - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #2 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 Arg295Stop - RDH12_000067 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P2 PubMed: Aleman 2018 - F - - German,Irish, English, Dutch - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #2 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 Arg295Stop - RDH12_000067 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P3 PubMed: Aleman 2018 - M - - German,Irish, English, Dutch - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #2 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 Asp101Gly - RDH12_000067 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P8 PubMed: Aleman 2018 - M - - German,Irish, Czech - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #2 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 Asp101Gly - RDH12_000067 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P14 PubMed: Aleman 2018 - F - - German,Irish, Czech - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #2 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 Arg295Stop - RDH12_000067 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P16 PubMed: Aleman 2018 - F - - Irish, Scottish, Welsh - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #2 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 Arg295Stop - RDH12_000067 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P19 PubMed: Aleman 2018 - M - - Irish, Scottish, Welsh - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #1 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 c.883C>T, Arg295X - RDH12_000067 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 15 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #2 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 c.883C>T, Arg295X - RDH12_000067 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 16 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #2 - likely pathogenic g.68200497C>T g.67733780C>T RDH12 p.Arg295Stop - RDH12_000067 no nucleotide written, extrapolated from protein; heterozygous PubMed: Philip 2019 - - Unknown ? - - - - DNA ? - - retinal disease 1 PubMed: Philip 2019 - M - United States - - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Parent #2 ACMG likely pathogenic g.68200497C>T g.67733780C>T RDH12 c.883C>T, p.Arg295* - RDH12_000067 heterozygous PubMed: Scott 2020 - - Germline yes - - - - DNA ? - - retinal disease OGI1610-2840 PubMed: Scott 2020 - F - United States - - - - - 1 LOVD
+?/. 7 c.883C>T r.(?) p.(Arg295*) Unknown - likely pathogenic g.68200497C>T g.67733780C>T RDH12 p.Arg295Stop:c.C > T - RDH12_000067 error in annotation, should be c.883C>T; heterozygous PubMed: Garg 2017 - - Unknown ? - - - - DNA SEQ - - retinal disease - PubMed: Garg 2017 Family 3, proband M - United States - - - - - 1 LOVD
+?/. - c.883C>T r.(?) p.(Arg295*) Both (homozygous) - likely pathogenic g.68200497C>T g.67733780C>T RDH12 c.883C>T , p.(Arg295Ter) - RDH12_000067 homozygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 12 PubMed: Avela 2019 - ? - Finland - - - - - 1 LOVD
+/. - c.883C>T r.(?) p.(Arg295*) Unknown ACMG pathogenic g.68200497C>T g.67733780C>T RDH12 c.883C>T, p.(Arg295*) - RDH12_000067 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 33_39 PubMed: Zhu 2022 family 33, individual 39 F - - - - - - - 1 LOVD
+/. 9 c.883C>T r.(?) p.(Arg295Ter) Parent #2 ACMG pathogenic g.68200497C>T g.67733780C>T - - RDH12_000067 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071326 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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