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.

29 entries on 1 page. Showing entries 1 - 29.
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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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DB-ID     

Variant remarks     

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ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Disease     

ID_report     

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Owner     
+?/. - 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
+/. 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
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