E72* (p.Glu72Ter) variant of CHD8 (Q9HCK8)
E72* (p.Glu72Ter) in CHD8 (Q9HCK8) is a protein-truncating change. The record also includes structural context.
E72* (p.Glu72Ter) variant details
- p.Glu72Ter
- Ensembl rs1555318712
- Stop Gained
- Structural context available