Variant: rs104893810 

    present in Gene: TGFBR2
    present in Chromosome: 3
    Position on Chromosome: 30691477
    Alleles of this Variant: C/T

rs104893810 in TGFBR2 gene and Aortic aneurysm, familial thoracic 3 PMID 15235604 2004 Heterozygous TGFBR2 mutations in Marfan syndrome.

PMID 22113417 2012 Clinical features and genetic analysis of Korean 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 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

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

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 20358619 2010 Germline TGF-beta receptor mutations and skeletal fragility: a report on two 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.

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

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

rs104893810 in TGFBR2 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 23103230 2012 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

PMID 18781618 2008 Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

rs104893810 in TGFBR2 gene and Loeys-Dietz Syndrome PMID 18781618 2008 Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 17330129 2007 Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.

PMID 23884466 2013 TGFβ receptor mutations impose a strong predisposition for human allergic disease.

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.