L20S (p.Leu20Ser) variant of F9 (Coagulation factor IX)
L20S (p.Leu20Ser) 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; Thrombophilia, X-linked, due to factor. The record also includes published literature and structural context.
L20S (p.Leu20Ser) variant details
- p.Leu20Ser
- UniProt VAR 073975
- Pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Variant of uncertain significance (in HEMB)
- UniProt: Uncertain significance (in HEMB)
- Structural context available
- Cited in: Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five… (PMID 25251685)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)