K40* (p.Lys40Ter) variant of TBX20 (T-box transcription factor TBX20)
K40* (p.Lys40Ter) 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.
K40* (p.Lys40Ter) variant details
- p.Lys40Ter
- rs2128716604
- ClinGen CA367265465
- ClinVar RCV001993590
- Ensembl rs2128716604
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available