T18I (p.Thr18Ile) variant of GJB6 (Gap junction beta-6 protein)
T18I (p.Thr18Ile) in GJB6 (Gap junction beta-6 protein) is a missense change. The record also includes structural context.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- cosmic curated COSV53833
- Missense
- Structural context available