C49* (p.Cys49Ter) variant of NOTCH3 (Q9UM47)
C49* (p.Cys49Ter) in NOTCH3 (Q9UM47) is a protein-truncating change. The record also includes structural context.
C49* (p.Cys49Ter) variant details
- p.Cys49Ter
- ExAC rs777943180
- gnomAD rs777943180
- Stop Gained
- Structural context available