E42* (p.Glu42Ter) variant of GJB2 (Gap junction beta-2 protein)
E42* (p.Glu42Ter) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The record also includes structural context.
E42* (p.Glu42Ter) variant details
- p.Glu42Ter
- cosmic curated COSV67010
- Stop Gained
- Structural context available