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.

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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     
+/+ 1i c.12-2A>G r.spl p.? - pathogenic (recessive) g.68914391T>C g.68448708T>C - - RPE65_000134 - PubMed: Ripamonti 2014 - - Germline yes 1/18 chromosomes - 0 - Muhammad Ajmal
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