C53* (p.Cys53Ter) variant of EDN1 (Endothelin-1)
C53* (p.Cys53Ter) in EDN1 (Endothelin-1) is a protein-truncating change. The record also includes structural context.
C53* (p.Cys53Ter) variant details
- p.Cys53Ter
- TOPMed rs1762709282
- Stop Gained
- Structural context available