C34R (p.Cys34Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
C34R (p.Cys34Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Stickler syndrome, type I, nonsyndromic ocular; not provided. The record also includes structural context.
C34R (p.Cys34Arg) variant details
- p.Cys34Arg
- rs2540187904
- ClinGen CA384526788
- ClinVar RCV003120486
- Pathogenic/Likely pathogenic
- Stickler syndrome, type I, nonsyndromic ocular; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Stickler syndrome, type I, nonsyndromic ocular; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available