E71* (p.Glu71Ter) variant of CHD8 (Q9HCK8)
E71* (p.Glu71Ter) in CHD8 (Q9HCK8) is a protein-truncating change. The record also includes structural context.
E71* (p.Glu71Ter) variant details
- p.Glu71Ter
- TOPMed rs1555318714
- Stop Gained
- Structural context available