Q48* (p.Gln48Ter) variant of TBX5 (T-box transcription factor TBX5)
Q48* (p.Gln48Ter) 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.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- rs863223777
- ClinGen CA325146
- ClinVar RCV000200559
- ClinVar RCV001390030
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available