E41* (p.Glu41Ter) variant of GJB1 (Gap junction beta-1 protein)
E41* (p.Glu41Ter) in GJB1 (Gap junction beta-1 protein) is a protein-truncating change. The record also includes structural context.
E41* (p.Glu41Ter) variant details
- p.Glu41Ter
- cosmic curated COSV62139
- Stop Gained
- Structural context available