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.119G>A r.(?) p.(Gly40Asp) - pathogenic (recessive) g.68912519C>T g.68446836C>T - - RPE65_000156 - PubMed: Li 2017 - - Germline yes - - 0 - James Hejtmancik
+?/. - c.119G>A r.(?) p.(Gly40Asp) ACMG likely pathogenic g.68912519C>T g.68446836C>T RPE65 NM_000329: g.3124G>A, c.119G>A, p.G40D - RPE65_000156 - PubMed: Xu 2020 - - Unknown ? - - 0 - LOVD
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