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.

5 entries on 1 page. Showing entries 1 - 5.
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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.65T>C r.(?) p.(Leu22Pro) - likely pathogenic (recessive) g.68914336A>G g.68448653A>G - - RPE65_000151 - PubMed: Simonelli 2007 - - Germline yes - NlaIV+ 0 - Muhammad Ajmal
+?/+? 2 c.65T>C r.(?) p.(Leu22Pro) - likely pathogenic (recessive) g.68914336A>G g.68448653A>G 119T>C - RPE65_000151 - PubMed: Marlhens 1998, PubMed: Hamel 2001 - - Germline yes 1/184 NlaIV+ 0 - Muhammad Ajmal
+/. 2 c.65T>C r.(?) p.(Leu22Pro) - pathogenic g.68914336A>G g.68448653A>G - - RPE65_000151 - PubMed: Bernardis 2016 - - Germline - - - 0 - LOVD
+/. 2 c.65T>C r.(?) p.(Leu22Pro) - pathogenic g.68914336A>G g.68448653A>G - - RPE65_000151 - PubMed: Bernardis 2016 - - Germline - - - 0 - LOVD
?/. - c.65T>C r.(?) p.(Leu22Pro) ACMG VUS g.68914336A>G g.68448653A>G RPE65 c.65T>C; p.Leu22Pro - RPE65_000151 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - LOVD
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