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.57_58del r.(?) p.(Glu20Glyfs*31) - pathogenic (recessive) g.68914343_68914344del g.68448660_68448661del p.(Val19Valfs*31) - RPE65_000132 - PubMed: Koenekoop 2014 - - Germline yes 2/14 chromosomes SfcI+;BsaXI (2)- 0 - Muhammad Ajmal
+/+ 2 c.57_58del r.(?) p.(Glu20Glyfs*31) - pathogenic (recessive) g.68914343_68914344del g.68448660_68448661del V19del2bp - RPE65_000132 - PubMed: Dharmaraj 2000 - - Germline yes 1/100 cases SfcI+;BsaXI (2) - 0 - Muhammad Ajmal
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