G48* (p.Gly48Ter) variant of ACTA2 (Actin, aortic smooth muscle)
G48* (p.Gly48Ter) in ACTA2 (Actin, aortic smooth muscle) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
G48* (p.Gly48Ter) variant details
- p.Gly48Ter
- rs869025351
- ClinGen CA352096
- ClinVar RCV000208504
- Ensembl rs869025351
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)