E47* (p.Glu47Ter) variant of TBX20 (T-box transcription factor TBX20)
E47* (p.Glu47Ter) in TBX20 (T-box transcription factor TBX20) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E47* (p.Glu47Ter) variant details
- p.Glu47Ter
- rs2546997545
- ClinGen CA367265406
- ClinVar RCV003177147
- ClinVar RCV005101075
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available