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.

2 entries on 1 page. Showing entries 1 - 2.
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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.190C>T r.(?) p.(Gln64*) - likely pathogenic (recessive) g.68912448G>A g.68446765G>A 244C>T - RPE65_000041 - PubMed: Perrault 1999 - - Germline yes - Cac8I- 0 - Muhammad Ajmal
+/+ 3 c.190C>T r.(?) p.(Gln64*) - pathogenic (recessive) g.68912448G>A g.68446765G>A - - RPE65_000041 - PubMed: Hanein 2004 - - Germline - - Cac8I- 0 - Muhammad Ajmal
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