Variant: rs1556861311 

    present in Gene: IQSEC2
    present in Chromosome: X
    Position on Chromosome: 53243331
    Alleles of this Variant: C/T

rs1556861311 in IQSEC2 gene and Mental Retardation, X-Linked 1 PMID 21686261 2010 Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.

PMID 26793055 2015 Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.

PMID 27665735 2016 The molecular and phenotypic spectrum of IQSEC2-related epilepsy.