C219R (p.Cys219Arg) variant of ACTA2 (Actin, aortic smooth muscle)
C219R (p.Cys219Arg) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aortic aneurysm, familial thoracic 6. The record also includes published literature and structural context.
C219R (p.Cys219Arg) variant details
- p.Cys219Arg
- rs2494528886
- ClinGen CA377511471
- ClinVar RCV003320031
- Pathogenic
- Aortic aneurysm, familial thoracic 6
- Missense
- ClinVar: Pathogenic (Aortic aneurysm, familial thoracic 6)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)