C39* (p.Cys39Ter) variant of CRB1 (Protein crumbs homolog 1)
C39* (p.Cys39Ter) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
C39* (p.Cys39Ter) variant details
- p.Cys39Ter
- rs2465024880
- ClinGen CA344085056
- ClinVar RCV002853215
- 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: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)