Y605C (p.Tyr605Cys) variant of F8 (Coagulation factor VIII)
Y605C (p.Tyr605Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor VIII deficiency disease. The record also includes structural context.
Y605C (p.Tyr605Cys) variant details
- p.Tyr605Cys
- TOPMed rs137852427
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available