C48* (p.Cys48Ter) variant of NOTCH1 (P46531)
C48* (p.Cys48Ter) in NOTCH1 (P46531) is a protein-truncating change. The record also includes structural context.
C48* (p.Cys48Ter) variant details
- p.Cys48Ter
- Ensembl rs2133379881
- Stop Gained
- Structural context available