G20C (p.Gly20Cys) variant of TSC1 (Hamartin)
G20C (p.Gly20Cys) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- Ensembl rs2132295199
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available