G833D (p.Gly833Asp) variant of CRB1 (Protein crumbs homolog 1)
G833D (p.Gly833Asp) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Leber congenital amaurosis 8; Retinitis pigmentosa 12; Leber congenital amaurosi. The record also includes published literature and structural context.
G833D (p.Gly833Asp) variant details
- p.Gly833Asp
- rs1571540258
- ClinGen CA344037805
- ClinVar RCV001002995
- ClinVar RCV001250627
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; Leber congenital amaurosi
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 8; Retinitis pigmentosa 12; Leber con)
- 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)