G912S (p.Gly912Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G912S (p.Gly912Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
G912S (p.Gly912Ser) variant details
- p.Gly912Ser
- rs2540113868
- ClinGen CA384543539
- ClinVar RCV002791623
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available