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.

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

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.95-1G>A r.spl p.? - pathogenic (recessive) g.68912544C>T g.68446861C>T - - RPE65_000116 - PubMed: Kabir 2013 - - Germline yes 16/440 chromosomes - 0 - Muhammad Ajmal
+/+ 2i c.95-1G>A r.spl p.? - pathogenic (recessive) g.68912544C>T g.68446861C>T - - RPE65_000116 - PubMed: Kabir 2013 - - Germline yes 16/440 chromosomes - 0 - Muhammad Ajmal
+/+ 2i c.95-1G>A r.spl p.? - pathogenic (recessive) g.68912544C>T g.68446861C>T - - RPE65_000116 - PubMed: Kabir 2013 - - Germline yes 16/440 chromosomes - 0 - Muhammad Ajmal
+/+ 2i c.95-1G>A r.spl p.? - pathogenic (recessive) g.68912544C>T g.68446861C>T - - RPE65_000116 - PubMed: Kabir 2013 - - Germline yes 16/440 chromosomes - 0 - Muhammad Ajmal
+/. 2i c.95-1G>A r.spl p.? - pathogenic (recessive) g.68912544C>T g.68446861C>T - - RPE65_000116 - PubMed: Li 2017 - - Germline yes - - 0 - James Hejtmancik
Legend   How to query