Variant: rs121918470 

    present in Gene: PTPN11
    present in Chromosome: 12
    Position on Chromosome: 112489105
    Alleles of this Variant: A/C;G

rs121918470 in PTPN11 gene and Global developmental delay PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

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

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

rs121918470 in PTPN11 gene and LEOPARD Syndrome PMID 20578946 2010 PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

PMID 15690106 2005 Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

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

PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

rs121918470 in PTPN11 gene and Large head (disorder) PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

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

PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

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

rs121918470 in PTPN11 gene and Leopard Syndrome 1 PMID 24891296 2014 A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

PMID 15389709 2004 Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.

PMID 12058348 2002 Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

PMID 15690106 2005 Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

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 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

PMID 14961557 2003 A novel PTPN11 mutation in LEOPARD syndrome.

PMID 16679933 2006 Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

PMID 16733669 2006 "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."

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 15121796 2004 Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

rs121918470 in PTPN11 gene and NOONAN SYNDROME 3 PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

PMID 15690106 2005 Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

PMID 20308328 2010 Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.

PMID 20578946 2010 PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

PMID 22488759 2012 Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.

rs121918470 in PTPN11 gene and Noonan Syndrome PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

PMID 15690106 2005 Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.