C103* (p.Cys103Ter) variant of F11 (Coagulation factor XI)
C103* (p.Cys103Ter) in F11 (Coagulation factor XI) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C103* (p.Cys103Ter) variant details
- p.Cys103Ter
- rs1740105027
- ClinGen CA1519932804
- ClinVar RCV001380981
- TOPMed rs1740105027
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available