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     
+/+ 3 c.183dup r.(?) p.(Asp62*) - pathogenic (recessive) g.68912457dup g.68446774dup 183_184insT - RPE65_000042 - PubMed: Katagiri 2014 - - Germline yes 3/14 chromosomes CspCI+;XcmI- 0 - Muhammad Ajmal
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