E60* (p.Glu60Ter) variant of TBX5 (T-box transcription factor TBX5)
E60* (p.Glu60Ter) in TBX5 (T-box transcription factor TBX5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E60* (p.Glu60Ter) variant details
- p.Glu60Ter
- rs1064794030
- ClinGen CA16619437
- ClinVar RCV000486016
- Ensembl rs1064794030
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available