R46S (p.Arg46Ser) variant of F9 (Coagulation factor IX)
R46S (p.Arg46Ser) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor IX deficiency disease. The record also includes published literature and structural context.
R46S (p.Arg46Ser) variant details
- p.Arg46Ser
- rs2520744315
- ClinVar RCV000011311
- UniProt VAR 006528
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in… (PMID 3461460)
- Cited in: Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five… (PMID 25251685)