Variant: rs397517159 

    present in Gene: SOS1
    present in Chromosome: 2
    Position on Chromosome: 39007168
    Alleles of this Variant: C/T

rs397517159 in SOS1 gene and Feeding difficulties PMID 17143282 2007 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

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.

rs397517159 in SOS1 gene and Noonan Syndrome PMID 21041952 2010 Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.

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

PMID 23673306 2013 Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.

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

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

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

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

rs397517159 in SOS1 gene and Noonan Syndrome 4 PMID 19438935 2009 SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.

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

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

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

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