N138H (p.Asn138His) variant of F9 (Coagulation factor IX)
N138H (p.Asn138His) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency. The record also includes published literature and structural context.
N138H (p.Asn138His) variant details
- p.Asn138His
- rs2520790255
- ClinGen CA414438845
- ClinVar RCV003066386
- UniProt VAR 073978
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (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: Hemophilia B. (PMID 20301668)