R15* (p.Arg15Ter) variant of F8 (Coagulation factor VIII)
R15* (p.Arg15Ter) in F8 (Coagulation factor VIII) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
R15* (p.Arg15Ter) variant details
- p.Arg15Ter
- rs387906432
- ClinGen CA255044
- NCI-TCGA Cosmic COSV6427
- ClinVar RCV000010865
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection. (PMID 1349567)
- Cited in: The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the… (PMID 1979502)