D101H (p.Asp101His) variant of F8 (Coagulation factor VIII)
D101H (p.Asp101His) 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.
D101H (p.Asp101His) variant details
- p.Asp101His
- UniProt VAR 028467
- Pathogenic
- in HEMA
- Missense
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Somatic mosaicism in hemophilia A: a fairly common event. (PMID 11410838)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)