Variant: rs121908595 

    present in Gene: MAP2K1
    present in Chromosome: 15
    Position on Chromosome: 66436843
    Alleles of this Variant: A/G

rs121908595 in MAP2K1 gene and CARDIOFACIOCUTANEOUS SYNDROME 3 PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

rs121908595 in MAP2K1 gene and Cardio-facio-cutaneous syndrome PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 24236184 2013 Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel.

PMID 22848035 2012 Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.

PMID 24637312 2014 Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia.

PMID 23093928 2012 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.

PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

PMID 17981815 2008 Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

PMID 17551924 2007 Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.

PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 17567882 2007 The patient died shortly thereafter and his post-mortem DNA analysis revealed a MEK1 mutation (Y130C) previously reported in CFC.

PMID 19156172 2009 Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

PMID 18632602 2008 Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.

rs121908595 in MAP2K1 gene and Congenital anomaly of face PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

PMID 17567882 2007 Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 17981815 2008 Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 17551924 2007 Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.

PMID 19156172 2009 Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

rs121908595 in MAP2K1 gene and Constipation PMID 17981815 2008 Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

PMID 17567882 2007 Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.

PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 17551924 2007 Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.

PMID 19156172 2009 Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

rs121908595 in MAP2K1 gene and Dysmorphic features PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PMID 25423878 2015 A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

PMID 24101678 2014 Autism traits in the RASopathies.

PMID 22753777 2012 MEK genomics in development and disease.

PMID 22589294 2012 Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.

PMID 27862862 2017 Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

PMID 12529707 2003 PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

PMID 12239713 2002 CFC index for the diagnosis of cardiofaciocutaneous syndrome.

PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

PMID 20958325 2010 Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

PMID 19156172 2009 Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

PMID 21654472 2011 Orthopaedic conditions in Ras/MAPK related disorders.

rs121908595 in MAP2K1 gene and Kyphosis deformity of spine PMID 17567882 2007 Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.

PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 19156172 2009 Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 17551924 2007 Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.

PMID 17981815 2008 Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

rs121908595 in MAP2K1 gene and Strabismus PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 17981815 2008 Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

PMID 17567882 2007 Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.

PMID 17551924 2007 Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.

PMID 19156172 2009 Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.