C76* (p.Cys76Ter) variant of F11 (Coagulation factor XI)
C76* (p.Cys76Ter) in F11 (Coagulation factor XI) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
C76* (p.Cys76Ter) variant details
- p.Cys76Ter
- rs2477228328
- ClinGen CA358958165
- ClinVar RCV002308099
- NCI-TCGA TCGA novel
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available