C12* (p.Cys12Ter) variant of NSD1 (Q96L73)
C12* (p.Cys12Ter) in NSD1 (Q96L73) is a protein-truncating change. The record also includes structural context.
C12* (p.Cys12Ter) variant details
- p.Cys12Ter
- TOPMed rs1433725330
- gnomAD rs1433725330
- Stop Gained
- Structural context available