Y35H (p.Tyr35His) variant of F8 (Coagulation factor VIII)
Y35H (p.Tyr35His) 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.
Y35H (p.Tyr35His) variant details
- p.Tyr35His
- UniProt VAR 028454
- Pathogenic
- in HEMA
- Missense
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular… (PMID 10800171)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)