Variant: rs1057519592 

    present in Gene: TCF4
    present in Chromosome: 18
    Position on Chromosome: 55257324
    Alleles of this Variant: -/A

rs1057519592 in TCF4 gene and PITT-HOPKINS SYNDROME PMID 22777675 2012 Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.