C450S (p.Cys450Ser) variant of CRB1 (Protein crumbs homolog 1)
C450S (p.Cys450Ser) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa 12; Leber congenital amaurosis 8. The record also includes published literature and structural context.
C450S (p.Cys450Ser) variant details
- p.Cys450Ser
- rs1664290387
- ClinGen CA344030486
- ClinVar RCV001995121
- ClinVar RCV002250793
- Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- ClinVar: Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8)
- EBI: Likely pathogenic
- UniProt: Likely 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)