Variant: rs1057516033 

    present in Gene: KAT6B
    present in Chromosome: 10
    Position on Chromosome: 75025250
    Alleles of this Variant: G/A

rs1057516033 in KAT6B gene and Agenesis of corpus callosum PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516033 in KAT6B gene and Blepharophimosis PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516033 in KAT6B gene and Bulbous nose PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516033 in KAT6B gene and Cryptorchidism PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516033 in KAT6B gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516033 in KAT6B gene and Global developmental delay PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516033 in KAT6B gene and Hypothyroidism PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516033 in KAT6B gene and Muscle Spasticity PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516033 in KAT6B gene and Young Simpson syndrome PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.