Variant: rs727504370 

    present in Gene: MAP2K2
    present in Chromosome: 19
    Position on Chromosome: 4110558
    Alleles of this Variant: T/C

rs727504370 in MAP2K2 gene and Cardio-facio-cutaneous syndrome PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in 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 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.

rs727504370 in MAP2K2 gene and Noonan Syndrome PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in 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 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.