Variant: rs397518474 

    present in Gene: HERC2
    present in Chromosome: 15
    Position on Chromosome: 28265707
    Alleles of this Variant: G/A

rs397518474 in HERC2 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 PMID 23065719 2012 A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.