C435G (p.Cys435Gly) variant of F9 (Coagulation factor IX)
C435G (p.Cys435Gly) 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.
C435G (p.Cys435Gly) variant details
- p.Cys435Gly
- rs2520848336
- ClinVar RCV004577670
- Likely pathogenic
- Hereditary factor IX deficiency disease
- Missense
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease)
- EBI: Likely pathogenic (in HEMB)
- UniProt: Likely pathogenic (in HEMB)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)