Variant: rs1135401795 

    present in Gene: ARHGEF9
    present in Chromosome: X
    Position on Chromosome: 63674097
    Alleles of this Variant: G/A

rs1135401795 in ARHGEF9 gene and Hyperekplexia and Epilepsy PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 28708303 2018 Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

PMID 17893116 2008 ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.

PMID 18615734 2009 A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.