Y47* (p.Tyr47Ter) variant of F9 (Coagulation factor IX)
Y47* (p.Tyr47Ter) in F9 (Coagulation factor IX) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Y47* (p.Tyr47Ter) variant details
- p.Tyr47Ter
- rs1556435929
- ClinGen CA414435626
- ClinVar RCV000497960
- Ensembl rs1556435929
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)