E48* (p.Glu48Ter) variant of GJA5 (Gap junction alpha-5 protein)
E48* (p.Glu48Ter) in GJA5 (Gap junction alpha-5 protein) is a protein-truncating change.
E48* (p.Glu48Ter) variant details
- p.Glu48Ter
- cosmic curated COSV54786
- Stop Gained
E48* (p.Glu48Ter) in GJA5 (Gap junction alpha-5 protein) is a protein-truncating change.