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.48T>C r.(?) p.(Phe16=) - benign g.68914353A>G g.68448670A>G RPE65(NM_000329.2):c.48T>C (p.F16=) - RPE65_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.48T>C r.(?) p.(Phe16=) - likely benign g.68914353A>G g.68448670A>G RPE65(NM_000329.2):c.48T>C (p.F16=) - RPE65_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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