Variant: rs121434497 

    present in Gene: MAP2K2
    present in Chromosome: 19
    Position on Chromosome: 4117552
    Alleles of this Variant: A/C;T

rs121434497 in MAP2K2 gene and CARDIOFACIOCUTANEOUS SYNDROME 4 PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 20358587 2010 Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

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

rs121434497 in MAP2K2 gene and Cardio-facio-cutaneous syndrome PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.