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.

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/+ 2i c.95-2A>T r.spl p.? - pathogenic (recessive) g.68912545T>A g.68446862T>A - - RPE65_000141 - PubMed: Jacobson 2012 - - Germline yes - - 0 - Muhammad Ajmal
+/+ 2i c.95-2A>T r.spl p.? - pathogenic (recessive) g.68912545T>A g.68446862T>A - - RPE65_000141 - PubMed: Jacobson 2012 - - Germline yes - - 0 - Muhammad Ajmal
+/+ 2i c.95-2A>T r.spl p.? - pathogenic (recessive) g.68912545T>A g.68446862T>A - - RPE65_000141 - PubMed: Simonelli 2007 - - Germline yes - ? 0 - Muhammad Ajmal
+/+ 2i c.95-2A>T r.spl p.? - pathogenic (recessive) g.68912545T>A g.68446862T>A - - RPE65_000141 - PubMed: Hanein 2004 - - Germline yes - - 0 - Muhammad Ajmal
+/. 2i c.95-2A>T r.spl p.? - pathogenic (recessive) g.68912545T>A g.68446862T>A - - RPE65_000141 - Sharon, submitted - - Germline - - - 0 - Dror Sharon
+/. 2i c.95-2A>T r.spl p.? - pathogenic (recessive) g.68912545T>A g.68446862T>A - - RPE65_000141 - Sharon, submitted - - Germline - - - 0 - Dror Sharon
+/. - c.95-2A>T r.spl p.? ACMG pathogenic g.68912545T>A - - - RPE65_000141 - PubMed: Sharon 2019 - - Germline - 14/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. - c.95-2A>T r.spl p.? ACMG pathogenic g.68912545T>A - - - RPE65_000141 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. - c.95-2A>T r.spl p.? - pathogenic g.68912545T>A g.68446862T>A - - RPE65_000141 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - 0 - Johan den Dunnen
+/. - c.95-2A>T r.spl p.? - pathogenic (recessive) g.68912545T>A g.68446862T>A - - RPE65_000141 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.95-2A>T r.spl p.? - pathogenic (recessive) g.68912545T>A g.68446862T>A - - RPE65_000141 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. 2i c.95-2A>T r.spl? p.? - pathogenic g.68912545T>A - c.95-2A>T - RPE65_000141 - PubMed: Avila Fernandez 2010 - - Germline - - - 0 - LOVD
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