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     
?/. - c.317G>A r.(?) p.(Cys106Tyr) - VUS g.68910495C>T g.68444812C>T - - RPE65_000188 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs142052358 Germline - 4/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. 4 c.317G>A r.(?) p.(Cys106Tyr) - VUS g.68910495C>T g.68444812C>T G317A - RPE65_000188 - PubMed: Katagiri 2014 - - Germline - - - 0 - LOVD
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