R226L (p.Arg226Leu) variant of F9 (Coagulation factor IX)
R226L (p.Arg226Leu) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary factor IX deficiency disease. The record also includes structural context.
R226L (p.Arg226Leu) variant details
- p.Arg226Leu
- NCI-TCGA Cosmic COSV5438
- cosmic curated COSV54380
- TOPMed rs137852241
- Pathogenic
- not provided; Hereditary factor IX deficiency disease
- Missense
- ClinVar: Pathogenic (not provided; Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available