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.188G>A r.(?) p.(Gly63Glu) ACMG likely pathogenic g.68912450C>T g.68446767C>T NM_000329.2:c.188G>A, NP_000320.1:p.(Gly63Glu), NC_000001.10:g.68912450C>T - RPE65_000294 - PubMed: Wang 2018 - - Germline ? - - 0 - LOVD
+?/. 3 c.188G>A r.(?) p.(Gly63Glu) - likely pathogenic (recessive) g.68912450C>T - c.188G>A - RPE65_000294 - PubMed: Liu-2020 - - Germline - - - 0 - LOVD
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