Full data view for gene RDH5

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_002905.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA 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     
+?/? 2 c.55A>G r.(?) p.(Arg19Gly) Both (homozygous) - likely pathogenic g.56115023A>G g.55721239A>G - - RDH5_000001 Homozugous missense mutation PubMed: Sergouniotis 2011 - - Germline - - - - - DNA PCR, SEQ - - fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Sergouniotis 2011 ? F ? - Europe-C - - - - 1 Raheel Qamar
+?/? 5 c.839G>A r.(?) p.(Arg280His) Parent #2 - likely pathogenic g.56118211G>A g.55724427G>A nt 839 G to A - RDH5_000001 Compound heterozygous missense mutation PubMed: Nakamura 2000, PubMed: Nakamura 2003 - - Germline - - - - - DNA PCR, SEQ - - fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Nakamura 2000, PubMed: Nakamura 2003 ? F ? Japan Unknown - - - - 4 Raheel Qamar
+?/? 5 c.839G>A r.(?) p.(Arg280His) Paternal (inferred) - likely pathogenic g.56118211G>A g.55724427G>A G to A at nucleotide 539 - RDH5_000001 Compound heterozygous missense mutation PubMed: Nakamura 2004, PubMed: Niwa 2005 - - Germline - - - - - DNA PCR, SEQ - - COD, fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Nakamura 2004, PubMed: Niwa 2005 4 generation family, 2 affected F yes Japan Unknown - - - - 4 Raheel Qamar
+?/? 5 c.839G>A r.(?) p.(Arg280His) Paternal (inferred) - likely pathogenic g.56118211G>A g.55724427G>A G to A at nucleotide 539 - RDH5_000001 Compound heterozygous missense mutation PubMed: Nakamura 2004, PubMed: Niwa 2005 - - Germline - - - - - DNA PCR, SEQ - - COD, fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Nakamura 2004, PubMed: Niwa 2005 4 generation family, 2 affected F yes Japan Unknown - - - - 4 Raheel Qamar
+?/? 5 c.839G>A r.(?) p.(Arg280His) Maternal (confirmed) - likely pathogenic g.56118211G>A g.55724427G>A CGC?CAC - RDH5_000001 Compound heterozygous missense mutation PubMed: Kuroiwa 2000 - - Germline - - - - - DNA PCR, SEQ - - fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Kuroiwa 2000 6 generation family, 1 affected , 2 affected with RP M no Japan Unknown - - - - 1 Raheel Qamar
+/? 5 c.839G>A r.(?) p.(Arg280His) Parent #1 - pathogenic g.56118211G>A g.55724427G>A CGC?CAC - RDH5_000001 Compound heterozygous missense mutation /Technique: also used autoradiograph SEQ PubMed: Gonzalez-Fernandez 1999 - - Germline - - - - - DNA PCR, SEQ, SSCA - - macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Gonzalez-Fernandez 1999 2 affected M no United States German - - - - 1 Raheel Qamar
+/? 5 c.839G>A r.(?) p.(Arg280His) Parent #1 - pathogenic g.56118211G>A g.55724427G>A CGC?CAC - RDH5_000001 Compound heterozygous missense mutation /Technique: also used autoradiograph SEQ PubMed: Gonzalez-Fernandez 1999 - - Germline - - - - - DNA PCR, SEQ, SSCA - - macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Gonzalez-Fernandez 1999 2 affected F no United States German - - - - 1 Raheel Qamar
+?/? 5 c.839G>A r.(?) p.(Arg280His) Parent #1 - likely pathogenic g.56118211G>A g.55724427G>A nt 839 G to A - RDH5_000001 Compound heterozygous missense mutation PubMed: Nakamura 2000, PubMed: Nakamura 2003 - - Germline - - - - - DNA PCR, SEQ - - fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Nakamura 2000, PubMed: Nakamura 2003 ? F ? Japan Unknown - - - - 1 Raheel Qamar
+?/? 5 c.839G>A r.(?) p.(Arg280His) Parent #1 - likely pathogenic g.56118211G>A g.55724427G>A - - RDH5_000001 Compound heterozygous missense mutation PubMed: Sato 2004 - - Germline - - - - - DNA PCR, SEQ - - fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Sato 2004 ? ? ? Japan Unknown - - - - 1 Raheel Qamar
+?/? 5 c.839G>A r.(?) p.(Arg280His) Parent #1 - likely pathogenic g.56118211G>A g.55724427G>A 839 G?A - RDH5_000001 Compound heterozygous missense mutation PubMed: Niwa 2005 - - Germline - - - - - DNA PCR, SEQ - - fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Niwa 2005 ? M ? Japan Unknown - - - - 1 Raheel Qamar
+?/? 5 c.839G>A r.(?) p.(Arg280His) Parent #1 - likely pathogenic g.56118211G>A g.55724427G>A 839 G?A - RDH5_000001 Compound heterozygous missense mutation PubMed: Niwa 2005 - - Germline - - - - - DNA PCR, SEQ - - fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Niwa 2005 ? F ? Japan Unknown - - - - 1 Raheel Qamar
+?/? 5 c.839G>A r.(?) p.(Arg280His) Parent #1 - likely pathogenic g.56118211G>A g.55724427G>A 839 G?A - RDH5_000001 Compound heterozygous missense mutation PubMed: Niwa 2005 - - Germline - - - - - DNA PCR, SEQ - - macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA)) - PubMed: Niwa 2005 ? M ? Japan Unknown - - - - 1 Raheel Qamar
+/. - c.839G>A r.(?) p.(Arg280His) Both (homozygous) - pathogenic g.56118211G>A g.55724427G>A - - RDH5_000001 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 1928 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.839G>A r.(?) p.(Arg280His) Both (homozygous) - pathogenic (recessive) g.56118211G>A g.55724427G>A - - RDH5_000001 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-501-1038 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. 5 c.839G>A r.(?) p.(Arg280His) Both (homozygous) - pathogenic g.56118211G>A - c.839G>A - RDH5_000001 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+?/. 5 c.839G>A r.(?) p.(Arg280His) Both (homozygous) - likely pathogenic g.56118211G>A g.55724427G>A RDH5 Ex.5 c.839G>A p.(Arg280His), Ex.5 c.839G>A p.(Arg280His) - RDH5_000001 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1898 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.839G>A r.(?) p.(Arg280His) Unknown ACMG likely pathogenic g.56118211G>A g.55724427G>A RDH5:NM_002905 c.G839A, p.R280H - RDH5_000001 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-402 PubMed: Rodriguez-Munoz 2020 family fRPN-183, proband F - Spain - - - - - 1 LOVD
+?/. - c.839G>A r.(?) p.(Arg280His) Both (homozygous) - likely pathogenic (recessive) g.56118211G>A g.55724427G>A RDH5 R280H - RDH5_000001 expresion levels (% wild type): 2; in vivo activity (% wild type): <1; in vitro activity: non-active; expected consequences and localisation of mutations: R is highly conserved in SDRs and forms H-bonds to E183 and D187 in the active site alpha-helix; no nucleotide annotation, extrapolated from protein PubMed: Liden 2001 - - In vitro (cloned) ? - - - - DNA ? - in vitro assays retinal disease ? PubMed: Liden 2001 protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells - - - - - - - - 1 LOVD
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