G20* (p.Gly20Ter) variant of TSC2 (Tuberin)
G20* (p.Gly20Ter) in TSC2 (Tuberin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G20* (p.Gly20Ter) variant details
- p.Gly20Ter
- Ensembl rs1596234105
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available