Variant: rs121908594 

    present in Gene: MAP2K1
    present in Chromosome: 15
    Position on Chromosome: 66435104
    Alleles of this Variant: T/C

rs121908594 in MAP2K1 gene and CARDIOFACIOCUTANEOUS SYNDROME 3 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.

rs121908594 in MAP2K1 gene and Cardio-facio-cutaneous syndrome PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.