Variant: rs1057518881 

    present in Gene: FBN1
    present in Chromosome: 15
    Position on Chromosome: 48513656
    Alleles of this Variant: C/A;G;T

rs1057518881 in FBN1 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 19349279 2009 Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.

PMID 24501682 2013 Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

PMID 28973303 2017 FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.

PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

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

PMID 16905551 2006 Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.

rs1057518881 in FBN1 gene and Marfan Syndrome PMID 19349279 2009 Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.

PMID 28973303 2017 FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.

PMID 24501682 2013 Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

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

PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

PMID 16905551 2006 Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.