Variant: rs946006593 

    present in Gene: GATAD2B
    present in Chromosome: 1
    Position on Chromosome: 153812108
    Alleles of this Variant: G/A;C

rs946006593 in GATAD2B gene and Movement Disorders PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 26944241 2016 Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 23644463 2013 GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

rs946006593 in GATAD2B gene and Overgrowth PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 23644463 2013 GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 26944241 2016 Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.