D75Y (p.Asp75Tyr) variant of F8 (Coagulation factor VIII)
D75Y (p.Asp75Tyr) in F8 (Coagulation factor VIII) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HEMA. The record also includes published literature and structural context.
D75Y (p.Asp75Tyr) variant details
- p.Asp75Tyr
- UniProt VAR 028460
- Pathogenic
- in HEMA
- Missense
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients… (PMID 10896236)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)