E72* (p.Glu72Ter) variant of F9 (Coagulation factor IX)
E72* (p.Glu72Ter) in F9 (Coagulation factor IX) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E72* (p.Glu72Ter) variant details
- p.Glu72Ter
- rs1927498635
- ClinGen CA414436088
- ClinVar RCV001265101
- Ensembl rs1927498635
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)