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.

9 entries on 1 page. Showing entries 1 - 9.
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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     
+/. - c.329A>G r.(?) p.(Asp110Gly) - pathogenic (recessive) g.68910483T>C g.68444800T>C - - RPE65_000264 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.329A>G r.(?) p.(Asp110Gly) - pathogenic (recessive) g.68910483T>C g.68444800T>C - - RPE65_000264 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.329A>G r.(?) p.(Asp110Gly) - pathogenic (recessive) g.68910483T>C g.68444800T>C - - RPE65_000264 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.329A>G r.(?) p.(Asp110Gly) - pathogenic (recessive) g.68910483T>C g.68444800T>C - - RPE65_000264 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.329A>G r.(?) p.(Asp110Gly) - pathogenic (recessive) g.68910483T>C g.68444800T>C - - RPE65_000264 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.329A>G r.(?) p.(Asp110Gly) - pathogenic (recessive) g.68910483T>C g.68444800T>C - - RPE65_000264 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.329A>G r.(?) p.(Asp110Gly) - pathogenic (recessive) g.68910483T>C g.68444800T>C - - RPE65_000264 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+?/. - c.329A>G r.(?) p.(Asp110Gly) - likely pathogenic (recessive) g.68910483T>C - - - RPE65_000264 - PubMed: Beryozkin 2015 - - Germline - - - 0 - Johan den Dunnen
?/. - c.329A>G r.(?) p.(Asp110Gly) ACMG VUS g.68910483T>C g.68444800T>C RPE65 c.329A>G, p.(Asp110Gly), c.1102T>C, p.(Tyr368His) - RPE65_000264 - PubMed: Jespersgaar 2019 - - Germline ? - - 0 - LOVD
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