E74* (p.Glu74Ter) variant of NOTCH3 (Q9UM47)
E74* (p.Glu74Ter) in NOTCH3 (Q9UM47) is a protein-truncating change. The record also includes structural context.
E74* (p.Glu74Ter) variant details
- p.Glu74Ter
- TOPMed rs1439473554
- gnomAD rs1439473554
- Stop Gained
- Structural context available