Variant: rs397516685 

    present in Gene: ACTA2;ACTA2-AS1;STAMBPL1
    present in Chromosome: 10
    Position on Chromosome: 88939680
    Alleles of this Variant: C/T

rs397516685 in ACTA2;ACTA2-AS1;STAMBPL1 gene and Aortic Aneurysm, Familial Thoracic 6 PMID 17994018 2007 Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

PMID 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 19639654 2009 Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

PMID 19409525 2009 Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

PMID 25173340 2014 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

rs397516685 in ACTA2;ACTA2-AS1;STAMBPL1 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 19409525 2009 Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

PMID 19639654 2009 Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).