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.97_116del r.(?) p.(Ile34Glnfs*11) - pathogenic (recessive) g.68912523_68912542del g.68446840_68446859del 97del20bp - RPE65_000113 - PubMed: Jacobson 2009 - - Germline - - ;DpnII-;HphI-;MboI-;MnlI-;NlaIV-;Sau3AI- 0 - Muhammad Ajmal
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