All variants in the RPE65 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000329.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. 3 c.208T>G r.(?) p.(Phe70Val) - likely pathogenic (recessive) g.68912430A>C g.68446747A>C - - RPE65_000002 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling
+?/+? 3 c.208T>G r.(?) p.(Phe70Val) - likely pathogenic (recessive) g.68912430A>C g.68446747A>C - - RPE65_000002 - PubMed: Simonelli 2007 - - Germline yes - BslI+;EcoNI+;HincII+;Hpy166II+ 0 - Muhammad Ajmal
?/. - c.208T>G r.(?) p.(Phe70Val) - VUS g.68912430A>C g.68446747A>C - - RPE65_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.208T>G r.(?) p.(Phe70Val) - pathogenic (recessive) g.68912430A>C g.68446747A>C - - RPE65_000002 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.208T>G r.(?) p.(Phe70Val) - pathogenic (recessive) g.68912430A>C g.68446747A>C - - RPE65_000002 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
Legend   How to query