C12* (p.Cys12Ter) variant of ACTA2 (Actin, aortic smooth muscle)
C12* (p.Cys12Ter) 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.
C12* (p.Cys12Ter) variant details
- p.Cys12Ter
- rs1589400454
- ClinGen CA377513780
- ClinVar RCV003516767
- 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: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)