C75* (p.Cys75Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
C75* (p.Cys75Ter) in COL2A1 (Collagen alpha-1(II) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C75* (p.Cys75Ter) variant details
- p.Cys75Ter
- rs2540187525
- ClinGen CA384526088
- ClinVar RCV002825503
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available