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     
+/. - c.250A>T r.(?) p.(Ile84Phe) - pathogenic g.68910562T>A g.68444879T>A RPE65 c.250A>T, p.Ile84Phe - RPE65_000250 heterozygous PubMed: Scholl 2015 - - Unknown ? - - 0 - LOVD
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