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.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/+ 3 c.138del r.(?) p.(Pro47Glnfs*47) - pathogenic (recessive) g.68912502del g.68446819del Gly46 del1tgtG - RPE65_000047 - PubMed: Pasadhika 2010 - - Germline yes - EaeI+;MscI+;Sau96I- 0 - Muhammad Ajmal
+/+ 3 c.138del r.(?) p.(Pro47Glnfs*47) - pathogenic (recessive) g.68912502del g.68446819del 1 bp del 46 - RPE65_000047 - PubMed: Galvin 2005 - - Germline yes 1/110 cases EaeI+;MscI+;Sau96I- 0 - Muhammad Ajmal
+/+ 3 c.138del r.(?) p.(Pro47Glnfs*47) - pathogenic (recessive) g.68912502del g.68446819del 1-bp del of (g) codon 46 - RPE65_000047 unknown variant 2ndchromosome PubMed: Lotery 2000 - - Germline - - EaeI+;MscI+;Sau96I- 0 - Muhammad Ajmal
+/+ 3 c.138del r.(?) p.(Pro47Glnfs*47) - pathogenic (recessive) g.68912502del g.68446819del Gly46 del1, tgtG - RPE65_000047 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - Sau96I- 0 - Muhammad Ajmal
+/. - c.138del r.(?) p.(Pro47Glnfs*47) - pathogenic (recessive) g.68912502del g.68446819del 138delG - RPE65_000047 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.138del r.(?) p.(Pro47Glnfs*47) - pathogenic (recessive) g.68912502del g.68446819del 138delG - RPE65_000047 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.138del r.(?) p.(Pro47Glnfs*47) - pathogenic (recessive) g.68912502del g.68446819del 138delG - RPE65_000047 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.138del r.(?) p.(Pro47Glnfs*47) - pathogenic (recessive) g.68912502del g.68446819del 138delG - RPE65_000047 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
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