Variant: rs1555534067 

    present in Gene: CTCF
    present in Chromosome: 16
    Position on Chromosome: 67610907
    Alleles of this Variant: C/A;T

rs1555534067 in CTCF gene and Dysmorphic features PMID 23746550 2013 De novo mutations in the genome organizer CTCF cause intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28619046 2017 Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

PMID 22354838 2012 CTCF: insights into insulator function during development.

PMID 18654629 2008 The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome.

PMID 19563753 2009 CTCF: master weaver of the genome.