L52S (p.Leu52Ser) variant of F9 (Coagulation factor IX)
L52S (p.Leu52Ser) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor IX deficiency disease. The record also includes published literature and structural context.
L52S (p.Leu52Ser) variant details
- p.Leu52Ser
- UniProt VAR 017344
- Likely pathogenic
- Hereditary factor IX deficiency disease
- Missense
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point… (PMID 12588353)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)