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     
+?/+? 4 c.253C>T r.(?) p.(Arg85Cys) - likely pathogenic (recessive) g.68910559G>A g.68444876G>A - - RPE65_000154 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsgI+;HpyCH4V+;AciI-;BtsCI-;FokI- 0 - Muhammad Ajmal
?/. 4 c.253C>T r.(?) p.(Arg85Cys) - VUS g.68910559G>A - c.253C>T - RPE65_000154 - PubMed: Colombo-2020 - rs763317722 Germline - - - 0 - LOVD
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