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.

4 entries on 1 page. Showing entries 1 - 4.
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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.235T>C r.(?) p.(Tyr79His) - likely pathogenic (recessive) g.68912403A>G g.68446720A>G 289T->C - RPE65_000034 - PubMed: Thompson 2000 - - Germline yes - - 0 - Muhammad Ajmal
+/. - c.235T>C r.(?) p.(Tyr79His) - pathogenic (recessive) g.68912403A>G g.68446720A>G - - RPE65_000034 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.235T>C r.(?) p.(Tyr79His) - pathogenic (recessive) g.68912403A>G g.68446720A>G - - RPE65_000034 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+?/. - c.235T>C r.(?) p.(Tyr79His) - likely pathogenic g.68912403A>G g.68446720A>G RPE65 p.Y79H (c.235T>C) - RPE65_000034 heterozygous PubMed: Preising 2007 - - Germline yes - - 0 - LOVD
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