E49* (p.Glu49Ter) variant of SCN4A (Nav1.4)
E49* (p.Glu49Ter) in SCN4A (Nav1.4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- ESP rs368011562
- ExAC rs368011562
- TOPMed rs368011562
- gnomAD rs368011562
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available