R79* (p.Arg79Ter) variant of F13A1 (Coagulation factor XIII A chain)
R79* (p.Arg79Ter) in F13A1 (Coagulation factor XIII A chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
R79* (p.Arg79Ter) variant details
- p.Arg79Ter
- rs2480385304
- ClinGen CA362742171
- ClinVar RCV003313884
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available