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.

6 entries on 1 page. Showing entries 1 - 6.
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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.74C>T r.(?) p.(Pro25Leu) - likely pathogenic (recessive) g.68914327G>A g.68448644G>A n.128C>T - RPE65_000150 - PubMed: Lorenz 2008 - - Germline yes - ApeKI+;BbvI+;TseI+;AciI-;BsrBI- 0 - Muhammad Ajmal
+/. - c.74C>T r.(?) p.(Pro25Leu) - pathogenic (recessive) g.68914327G>A - 1:68914327G>A ENST00000262340.5:c.74C>T (Pro25Leu) - RPE65_000150 - PubMed: Carss 2017 - - Germline - - - 0 - LOVD
+/. - c.74C>T r.(?) p.(Pro25Leu) - pathogenic (recessive) g.68914327G>A g.68448644G>A - - RPE65_000150 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.74C>T r.(?) p.(Pro25Leu) - pathogenic (recessive) g.68914327G>A g.68448644G>A - - RPE65_000150 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.74C>T r.(?) p.(Pro25Leu) - pathogenic (recessive) g.68914327G>A g.68448644G>A - - RPE65_000150 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+?/. - c.74C>T r.(?) p.(Pro25Leu) - likely pathogenic g.68914327G>A g.68448644G>A RPE65 c.74C>T, p.Pro25Leu - RPE65_000150 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - 0 - LOVD
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