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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/+ 4 c.289dup r.(?) p.(Arg97Lysfs*34) - pathogenic (recessive) g.68910526dup g.68444843dup 289_290dupA - RPE65_000080 - PubMed: den Hollander 2007 - - Germline yes - - 0 - Muhammad Ajmal
+?/+? 4 c.289dup r.(?) p.(Arg97Lysfs*34) - likely pathogenic (recessive) g.68910526dup g.68444843dup - - RPE65_000080 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
+/. - c.289dup r.(?) p.(Arg97Lysfs*34) - pathogenic (recessive) g.68910526dup g.68444843dup 289dupA - RPE65_000080 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
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