G50D (p.Gly50Asp) variant of F9 (Coagulation factor IX)
G50D (p.Gly50Asp) 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 Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency. The record also includes structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- cosmic curated COSV10725
- TOPMed rs1229048705
- gnomAD rs1229048705
- Likely pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- ClinVar: Likely pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available