R46T (p.Arg46Thr) variant of F9 (Coagulation factor IX)
R46T (p.Arg46Thr) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia, X-linked, due to factor 9 defect. The record also includes published literature and structural context.
R46T (p.Arg46Thr) variant details
- p.Arg46Thr
- UniProt VAR 006529
- Uncertain significance
- Thrombophilia, X-linked, due to factor 9 defect
- Missense
- ClinVar: Uncertain significance (Thrombophilia, X-linked, due to factor 9 defect)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the… (PMID 9600455)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)