Variant: rs397514037 

    present in Gene: MYH11;NDE1
    present in Chromosome: 16
    Position on Chromosome: 15721421
    Alleles of this Variant: C/A;G;T

rs397514037 in MYH11;NDE1 gene and Aortic aneurysm, familial thoracic 4 PMID 21937134 2013 Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

PMID 27611364 2016 Genetic testing of 248 Chinese aortopathy patients using a panel assay.

PMID 16444274 2006 Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.