Q96* (p.Gln96Ter) variant of F8 (Coagulation factor VIII)
Q96* (p.Gln96Ter) in F8 (Coagulation factor VIII) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q96* (p.Gln96Ter) variant details
- p.Gln96Ter
- rs2124146053
- ClinGen CA414920091
- ClinVar RCV001802391
- Ensembl rs2124146053
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)