Variant: rs199470482

present in Gene: KAT6B;DUPD1 present in Chromosome: 10 Position on Chromosome: 75030015 Alleles of this Variant: -/TGCTGCAGCA

rs199470482 in KAT6B;DUPD1 gene and Young Simpson 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.