Variant: rs1564632652 

    present in Gene: KAT6B;DUPD1
    present in Chromosome: 10
    Position on Chromosome: 75030114
    Alleles of this Variant: C/T

rs1564632652 in KAT6B;DUPD1 gene and Genitopatellar Syndrome PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.