Variant: rs121434526 

    present in Gene: STAMBPL1;ACTA2
    present in Chromosome: 10
    Position on Chromosome: 88941794
    Alleles of this Variant: G/A

rs121434526 in STAMBPL1;ACTA2 gene and Aortic Aneurysm, Familial Thoracic 6 PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome 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 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 24020716 2015 Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.

PMID 21248741 2011 Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.

PMID 17994018 2007 Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

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

PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

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

PMID 21212136 2011 Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).

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.