Variant: rs397515547 

    present in Gene: EZH2
    present in Chromosome: 7
    Position on Chromosome: 148809376
    Alleles of this Variant: C/T

rs397515547 in EZH2 gene and Weaver syndrome PMID 28229514 2017 Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.

PMID 23239504 2013 Weaver syndrome and defective cortical development: a rare association.

PMID 22190405 2011 Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

PMID 22177091 2012 Mutations in EZH2 cause Weaver syndrome.

PMID 26694085 2016 Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.