Y87* (p.Tyr87Ter) variant of TBX5 (T-box transcription factor TBX5)
Y87* (p.Tyr87Ter) 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 published literature and structural context.
Y87* (p.Tyr87Ter) variant details
- p.Tyr87Ter
- rs767197919
- ClinGen CA386862869
- ClinVar RCV003153142
- ClinVar RCV006342922
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)