C2345R (p.Cys2345Arg) variant of F8 (Coagulation factor VIII)
C2345R (p.Cys2345Arg) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor VIII deficiency disease. The record also includes structural context.
C2345R (p.Cys2345Arg) variant details
- p.Cys2345Arg
- TOPMed rs1237391471
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Likely pathogenic (in HEMA)
- UniProt: Likely pathogenic (in HEMA)
- Structural context available