Variant: rs397517154 

    present in Gene: SOS1
    present in Chromosome: 2
    Position on Chromosome: 39022773
    Alleles of this Variant: C/A;G;T

rs397517154 in SOS1 gene and NOONAN SYNDROME 3 PMID 17143282 2007 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 17586837 2007 SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

PMID 21387466 2011 SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

rs397517154 in SOS1 gene and Noonan Syndrome PMID 29037749 2018 Psychopathological features in Noonan syndrome.

PMID 26214590 2015 Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.

PMID 30266093 2018 Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

PMID 28378436 2017 Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome.

PMID 27236105 2016 RASopathy Gene Mutations in Melanoma.

PMID 21387466 2011 SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

PMID 26918529 2016 Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder.

PMID 25337068 2014 Clinical and Molecular Findings of Tunisian Patients with RASopathies.

PMID 22190897 2011 RASopathies: Clinical Diagnosis in the First Year of Life.

PMID 26686981 2016 Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

PMID 18854871 2009 Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

PMID 19352411 2009 SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

PMID 17143282 2007 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

PMID 21340158 2010 Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

PMID 21274610 2011 Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 17586837 2007 SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

PMID 17143285 2007 Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

PMID 22465605 2012 Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

rs397517154 in SOS1 gene and Noonan Syndrome 4 PMID 21387466 2011 SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

PMID 17143282 2007 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

PMID 19020799 2008 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

PMID 20683980 2010 Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

PMID 17143285 2007 Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

PMID 19953625 2010 Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

PMID 20673819 2011 Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

PMID 19438935 2009 SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.