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     
+/+ 2 c.90_91insT r.(?) p.(Thr31Tyrfs*21) - pathogenic (recessive) g.68914310_68914311insA g.68448627_68448628insA 144insT - RPE65_000147 - PubMed: Thompson 2000 - - Germline yes - MseI+ 0 - Muhammad Ajmal
+?/. - c.90_91insT r.(?) p.(Thr31TyrfsTer21) - likely pathogenic g.68914310_68914311insA g.68448627_68448628insA RPE65 p.T31NfsX21 (c.90insT) - RPE65_000147 error in annotation: should be c.90_91insT and not c.90insT, p.T31YfsX21 and not p.T31NfsX21, heterozygous PubMed: Preising 2007 - - Germline yes - - 0 - LOVD
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