Variant: rs1427624649 

    present in Gene: KANSL1
    present in Chromosome: 17
    Position on Chromosome: 46171102
    Alleles of this Variant: G/A;C

rs1427624649 in KANSL1 gene and Chromosome 17q21.31 Deletion Syndrome PMID 26424144 2015 Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

rs1427624649 in KANSL1 gene and Dysmorphic features PMID 26293599 2015 KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

PMID 22544363 2012 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

PMID 26424144 2015 Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

PMID 26306646 2016 The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

PMID 22544367 2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.