R75* (p.Arg75Ter) variant of F9 (Coagulation factor IX)
R75* (p.Arg75Ter) in F9 (Coagulation factor IX) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HEMB. The record also includes published literature and structural context.
R75* (p.Arg75Ter) variant details
- p.Arg75Ter
- rs137852227
- ClinGen CA340993
- NCI-TCGA Cosmic COSV5437
- cosmic curated COSV54378
- Pathogenic
- in HEMB
- Stop Gained
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions… (PMID 2198809)
- Cited in: Molecular pathology of haemophilia B. (PMID 2743975)