Variant: rs1300458163 

    present in Gene: TRIP12
    present in Chromosome: 2
    Position on Chromosome: 229880066
    Alleles of this Variant: G/A

rs1300458163 in TRIP12 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 PMID 27848077 2017 Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

PMID 28251352 2017 Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.