S134* (p.Ser134Ter) variant of COL11A1 (Collagen alpha-1(XI) chain)
S134* (p.Ser134Ter) in COL11A1 (Collagen alpha-1(XI) chain) is a protein-truncating change. The record also includes structural context.
S134* (p.Ser134Ter) variant details
- p.Ser134Ter
- TOPMed rs1672173379
- Stop Gained
- Structural context available