Variant: rs387906592 

    present in Gene: STAMBPL1;ACTA2
    present in Chromosome: 10
    Position on Chromosome: 88941309
    Alleles of this Variant: C/T

rs387906592 in STAMBPL1;ACTA2 gene and Aortic Aneurysm, Familial Thoracic 6 PMID 20734336 2010 De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

PMID 22752479 2013 Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.

PMID 22946110 2012 Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.

PMID 22831780 2012 A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.

PMID 25944730 2015 Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

PMID 26034244 2015 Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy.

PMID 24998021 2014 Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.

PMID 24621862 2014 Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.

PMID 24293535 2013 Cerebral arteriopathy associated with Arg179His ACTA2 mutation.

rs387906592 in STAMBPL1;ACTA2 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 22752479 2013 Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.

PMID 22302747 2012 R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.

PMID 20734336 2010 De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

PMID 20970362 2011 Analysis of ACTA2 in European Moyamoya disease patients.

rs387906592 in STAMBPL1;ACTA2 gene and MOYAMOYA DISEASE 5 PMID 20970362 2011 Analysis of ACTA2 in European Moyamoya disease patients.

rs387906592 in STAMBPL1;ACTA2 gene and MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME PMID 20734336 2010 De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

PMID 20970362 2011 Analysis of ACTA2 in European Moyamoya disease patients.

PMID 22752479 2013 Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.

PMID 22946110 2012 Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.

PMID 22831780 2012 A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.

PMID 22302747 2012 R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.