G69* (p.Gly69Ter) variant of SCN4A (Nav1.4)
G69* (p.Gly69Ter) 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.
G69* (p.Gly69Ter) variant details
- p.Gly69Ter
- TOPMed rs886053249
- gnomAD rs886053249
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available