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.190del r.(?) p.(Gln64Lysfs*30) - pathogenic (recessive) g.68912448del g.68446765del - - RPE65_000191 - - - - Germline - - - 0 - Juan Carlos Zenteno
+/. - c.190del r.(?) p.(Gln64Lysfs*30) ACMG pathogenic g.68912448del g.68446765del 190delC - RPE65_000191 ACMG PVS1, PM2, PM3, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - 0 - Johan den Dunnen
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