Variant: rs121918455 

    present in Gene: PTPN11
    present in Chromosome: 12
    Position on Chromosome: 112477720
    Alleles of this Variant: A/C;G

rs121918455 in PTPN11 gene and Blepharoptosis PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 16124853 2005 Noonan syndrome and related disorders: genetics and pathogenesis.

rs121918455 in PTPN11 gene and Downward slant of palpebral fissure PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

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

PMID 16124853 2005 Noonan syndrome and related disorders: genetics and pathogenesis.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

rs121918455 in PTPN11 gene and Increased tendency to bruise PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

PMID 16124853 2005 Noonan syndrome and related disorders: genetics and pathogenesis.

rs121918455 in PTPN11 gene and Low set ears PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

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

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 16124853 2005 Noonan syndrome and related disorders: genetics and pathogenesis.

rs121918455 in PTPN11 gene and NOONAN SYNDROME 3 PMID 15248152 2004 Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

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

PMID 16377799 2006 PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

PMID 17020470 2006 PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

PMID 17661820 2007 Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.

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

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

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

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

PMID 15985475 2005 PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.

PMID 15761018 2005 Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells.

PMID 12717436 2003 Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

PMID 15996221 2005 Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.

PMID 15987685 2005 Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

rs121918455 in PTPN11 gene and Noonan Syndrome PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

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

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

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

PMID 20718194 2010 A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey.

PMID 16124853 2005 Noonan syndrome and related disorders: genetics and pathogenesis.

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

rs121918455 in PTPN11 gene and Noonan Syndrome 1 PMID 15948193 2005 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

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

PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

PMID 15889278 2005 A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.

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

PMID 12325025 2002 PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

PMID 12739139 2003 Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.

PMID 12529711 2003 PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

PMID 12634870 2003 Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 12161469 2002 PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

PMID 24891296 2014 A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

PMID 28074573 2017 Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

PMID 15384080 2004 Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

PMID 12717436 2003 Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

rs121918455 in PTPN11 gene and Septal hypertrophy PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 16124853 2005 Noonan syndrome and related disorders: genetics and pathogenesis.