R36* (p.Arg36Ter) variant of SCN2A (Q99250)
R36* (p.Arg36Ter) in SCN2A (Q99250) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R36* (p.Arg36Ter) variant details
- p.Arg36Ter
- TOPMed rs796053167
- gnomAD rs796053167
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available