E28* (p.Glu28Ter) variant of SOX9 (Transcription factor SOX-9)
E28* (p.Glu28Ter) in SOX9 (Transcription factor SOX-9) is a protein-truncating change. The record also includes structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- cosmic curated COSV55422
- Ensembl rs2143236858
- Stop Gained
- Structural context available