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.

4 entries on 1 page. Showing entries 1 - 4.
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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.94G>T r.spl? p.(Gly32Cys) - pathogenic (recessive) g.68914307C>A g.68448624C>A G32C - RPE65_000227 - PubMed: Zhong 2019 - - Germline - - - 0 - LOVD
+/. - c.94G>T r.spl? p.(Gly32Cys) - pathogenic (recessive) g.68914307C>A g.68448624C>A G32C - RPE65_000227 - PubMed: Zhong 2019 - - Germline - - - 0 - LOVD
+/. - c.94G>T r.(?) p.(Gly32Cys) - pathogenic (recessive) g.68914307C>A g.68448624C>A - - RPE65_000227 - PubMed: Li 2019 - - Germline - - - 0 - LOVD
+/. - c.94G>T r.(?) p.(Gly32Cys) - pathogenic (recessive) g.68914307C>A g.68448624C>A - - RPE65_000227 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
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