Variant: rs1555729045 

    present in Gene: KMT2B
    present in Chromosome: 19
    Position on Chromosome: 35721772
    Alleles of this Variant: C/T

rs1555729045 in KMT2B gene and Movement Disorders PMID 23426673 2013 Histone-methyltransferase MLL2 (KMT2B) is required for memory formation in mice.

PMID 10409430 1999 MLL2: A new mammalian member of the trx/MLL family of genes.

PMID 27320412 2016 Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 16540515 2006 Multiple epigenetic maintenance factors implicated by the loss of Mll2 in mouse development.

PMID 27992417 2017 Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

PMID 21892160 2011 Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.

PMID 25405613 2014 Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

PMID 27839873 2016 Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.