C57* (p.Cys57Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
C57* (p.Cys57Ter) in COL2A1 (Collagen alpha-1(II) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in STL1O. The record also includes structural context.
C57* (p.Cys57Ter) variant details
- p.Cys57Ter
- Ensembl rs2136637244
- Pathogenic
- in STL1O
- Stop Gained
- EBI: Pathogenic (in STL1O)
- UniProt: Pathogenic (in STL1O)
- Structural context available