T18I (p.Thr18Ile) variant of GJB1 (Gap junction beta-1 protein)
T18I (p.Thr18Ile) in GJB1 (Gap junction beta-1 protein) is a missense change. The record also includes structural context.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- cosmic curated COSV62139
- Missense
- Structural context available