Q39* (p.Gln39Ter) variant of SCN2A (Nav1.2)
Q39* (p.Gln39Ter) in SCN2A (Nav1.2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q39* (p.Gln39Ter) variant details
- p.Gln39Ter
- ExAC rs757194863
- TOPMed rs757194863
- gnomAD rs757194863
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available