rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
|
27611364 |
2016 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.
|
25759435 |
2015 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.
|
25759435 |
2015 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
|
25644172 |
2015 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
|
25644172 |
2015 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Acute aortic dissections with pregnancy in women with ACTA2 mutations.
|
24243736 |
2014 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Acute aortic dissections with pregnancy in women with ACTA2 mutations.
|
24243736 |
2014 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
|
21937134 |
2013 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
|
21937134 |
2013 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.
|
21248741 |
2011 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene.
|
21733706 |
2011 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene.
|
21733706 |
2011 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.
|
21248741 |
2011 |
rs112901682
|
|
Aortic Aneurysm, Familial Thoracic 6
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
|
19409525 |
2009 |