K88* (p.Lys88Ter) variant of TBX5 (T-box transcription factor TBX5)
K88* (p.Lys88Ter) 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.
K88* (p.Lys88Ter) variant details
- p.Lys88Ter
- rs2136418232
- ClinGen CA386862861
- ClinVar RCV001530478
- Ensembl rs2136418232
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)