Variant: rs121918453 

    present in Gene: PTPN11
    present in Chromosome: 12
    Position on Chromosome: 112450394
    Alleles of this Variant: G/A;C;T

rs121918453 in PTPN11 gene and Brain Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121918453 in PTPN11 gene and Chronic Lymphocytic Leukemia PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121918453 in PTPN11 gene and Juvenile Myelomonocytic Leukemia PMID 19047918 2009 Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

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 26742426 2016 Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

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

PMID 14644997 2004 Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.

rs121918453 in PTPN11 gene and Leukemia, Myelocytic, Acute PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121918453 in PTPN11 gene and NEUROBLASTOMA, SUSCEPTIBILITY TO PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121918453 in PTPN11 gene and NOONAN SYNDROME 3 PMID 18759865 2009 PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.

rs121918453 in PTPN11 gene and Noonan Syndrome PMID 12161469 2002 PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

PMID 16399795 2006 Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

PMID 17177198 2007 Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.

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

PMID 14974085 2004 Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

PMID 18759865 2009 PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.

PMID 15001945 2004 Genotype-phenotype correlations in Noonan syndrome.

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

PMID 19737548 2009 High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.

PMID 16263833 2006 Noonan syndrome: relationships between genotype, growth, and growth factors.

PMID 14644997 2004 Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.

PMID 18562489 2008 Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11.

PMID 17339163 2007 Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.

PMID 14961557 2003 A novel PTPN11 mutation in LEOPARD syndrome.

PMID 16631468 2006 Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.

PMID 19047918 2009 Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

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

rs121918453 in PTPN11 gene and Noonan Syndrome 1 PMID 15384080 2004 Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

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

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

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

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

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

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

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

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

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

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

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

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