E32* (p.Glu32Ter) variant of SCN1A (Nav1.1)
E32* (p.Glu32Ter) in SCN1A (Nav1.1) is a protein-truncating change. The record also includes structural context.
E32* (p.Glu32Ter) variant details
- p.Glu32Ter
- cosmic curated COSV57689
- Ensembl rs1553560889
- Stop Gained
- Structural context available