E54D (p.Glu54Asp) variant of F9 (Coagulation factor IX)
E54D (p.Glu54Asp) in F9 (Coagulation factor IX) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HEMB. The record also includes published literature and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- UniProt VAR 073976
- Uncertain significance
- in HEMB
- Missense
- 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)