E28* (p.Glu28Ter) variant of CLCN1 (Chloride channel protein 1)
E28* (p.Glu28Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The record also includes structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- ExAC rs762761541
- gnomAD rs762761541
- Stop Gained
- Structural context available