C27S (p.Cys27Ser) variant of CRB1 (Protein crumbs homolog 1)
C27S (p.Cys27Ser) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive retinitis pigmentosa. The record also includes structural context.
C27S (p.Cys27Ser) variant details
- p.Cys27Ser
- rs1460946384
- ClinGen CA344084975
- ClinVar RCV001257858
- gnomAD rs1460946384
- Pathogenic
- Autosomal recessive retinitis pigmentosa
- Missense
- ClinVar: Pathogenic (Autosomal recessive retinitis pigmentosa)
- EBI: Pathogenic (in RP12)
- UniProt: Pathogenic (in RP12)
- Structural context available