K99* (p.Lys99Ter) variant of TBX5 (T-box transcription factor TBX5)
K99* (p.Lys99Ter) 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.
K99* (p.Lys99Ter) variant details
- p.Lys99Ter
- rs1565941529
- ClinGen CA386862732
- ClinVar RCV000782328
- Ensembl rs1565941529
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)