C49* (p.Cys49Ter) variant of SYNGAP1 (Q96PV0)
C49* (p.Cys49Ter) in SYNGAP1 (Q96PV0) is a protein-truncating change. The record also includes structural context.
C49* (p.Cys49Ter) variant details
- p.Cys49Ter
- Ensembl rs1554304679
- Stop Gained
- Structural context available