R72* (p.Arg72Ter) variant of F11 (Coagulation factor XI)
R72* (p.Arg72Ter) in F11 (Coagulation factor XI) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data and structural context.
R72* (p.Arg72Ter) variant details
- p.Arg72Ter
- ExAC rs773987040
- gnomAD rs773987040
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available