Variant: rs104893807 

    present in Gene: TGFBR2
    present in Chromosome: 3
    Position on Chromosome: 30674196
    Alleles of this Variant: C/G;T

rs104893807 in TGFBR2 gene and Aortic aneurysm, familial thoracic 3 PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 20101701 2010 Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 19533785 2009 Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

PMID 21949523 2011 A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

PMID 15235604 2004 Heterozygous TGFBR2 mutations in Marfan syndrome.

PMID 20358619 2010 Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.

PMID 16251899 2006 Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

PMID 16027248 2005 Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

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.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 19883511 2009 Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.