Variant: rs1556308480 

    present in Gene: KDM6A
    present in Chromosome: X
    Position on Chromosome: 45059287
    Alleles of this Variant: C/T

rs1556308480 in KDM6A gene and Dysmorphic features PMID 9499428 1998 The UTX gene escapes X inactivation in mice and humans.

PMID 23913813 2013 MLL2 and KDM6A mutations in patients with Kabuki syndrome.

PMID 24664873 2014 A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

PMID 27302555 2016 Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

PMID 23354975 2013 Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 18434530 2008 Sex-specific differences in expression of histone demethylases Utx and Uty in mouse brain and neurons.

PMID 24527667 2015 Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

PMID 23076834 2013 KDM6A point mutations cause Kabuki syndrome.

PMID 19330029 2009 Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 15690370 2005 Further delineation of Kabuki syndrome in 48 well-defined new individuals.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 17178841 2007 Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.

PMID 15690368 2005 Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.

PMID 22192413 2012 UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program.

rs1556308480 in KDM6A gene and Multiple congenital anomalies PMID 15690368 2005 Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 23076834 2013 KDM6A point mutations cause Kabuki syndrome.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 19330029 2009 Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

PMID 18434530 2008 Sex-specific differences in expression of histone demethylases Utx and Uty in mouse brain and neurons.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 15690370 2005 Further delineation of Kabuki syndrome in 48 well-defined new individuals.

PMID 17178841 2007 Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.

PMID 22192413 2012 UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program.

PMID 23354975 2013 Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

PMID 23913813 2013 MLL2 and KDM6A mutations in patients with Kabuki syndrome.

PMID 27302555 2016 Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

PMID 24664873 2014 A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

PMID 9499428 1998 The UTX gene escapes X inactivation in mice and humans.

PMID 24527667 2015 Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.