Variant: rs137852812 

    present in Gene: SOS1
    present in Chromosome: 2
    Position on Chromosome: 39051211
    Alleles of this Variant: G/T

rs137852812 in SOS1 gene and Noonan Syndrome PMID 19020799 2008 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

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

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

PMID 18678287 2009 Clinical and molecular characterization of 40 patients with Noonan syndrome.

rs137852812 in SOS1 gene and Noonan Syndrome 4 PMID 17143285 2007 Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

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

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

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

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 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.

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