Variant: rs144062658 

    present in Gene: DNMT3A
    present in Chromosome: 2
    Position on Chromosome: 25247079
    Alleles of this Variant: T/C

rs144062658 in DNMT3A gene and Tatton Brown Rahman syndrome PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 27317772 2016 SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.

PMID 27701732 2017 Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.