Variant: rs121918460 

    present in Gene: PTPN11
    present in Chromosome: 12
    Position on Chromosome: 112450364
    Alleles of this Variant: T/A;G

rs121918460 in PTPN11 gene and Dysplastic pulmonary valve PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs121918460 in PTPN11 gene and Heart Diseases PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

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

PMID 22711529 2012 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

rs121918460 in PTPN11 gene and Juvenile Myelomonocytic Leukemia PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

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

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

PMID 22711529 2012 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

PMID 15928039 2005 The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

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

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

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

rs121918460 in PTPN11 gene and Noonan Syndrome PMID 19352411 2009 SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

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

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

PMID 22711529 2012 Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome.

PMID 15928039 2005 The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

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

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

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

rs121918460 in PTPN11 gene and Noonan Syndrome 1 PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

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

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

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

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

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

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

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

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

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

PMID 15948193 2005 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

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

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

rs121918460 in PTPN11 gene and Ostium secundum atrial septal defect PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs121918460 in PTPN11 gene and Patent ductus arteriosus PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs121918460 in PTPN11 gene and Pediatric failure to thrive PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs121918460 in PTPN11 gene and Right Ventricular Hypertrophy PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs121918460 in PTPN11 gene and Tricuspid Valve Insufficiency PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.