E6* (p.Glu6Ter) variant of TBX5 (T-box transcription factor TBX5)
E6* (p.Glu6Ter) in TBX5 (T-box transcription factor TBX5) is a protein-truncating change. The record also includes structural context.
E6* (p.Glu6Ter) variant details
- p.Glu6Ter
- cosmic curated COSV59863
- Stop Gained
- Structural context available