E21* (p.Glu21Ter) variant of RPE65 (Retinoid isomerohydrolase)
E21* (p.Glu21Ter) in RPE65 (Retinoid isomerohydrolase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E21* (p.Glu21Ter) variant details
- p.Glu21Ter
- rs2523458378
- ClinGen CA340750196
- ClinVar RCV003061518
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Autosomal Recessive RPE65-Related Retinal Degeneration. (PMID 31725251)