Variant: rs1555028206 

    present in Gene: KMT5B
    present in Chromosome: 11
    Position on Chromosome: 68171705
    Alleles of this Variant: G/A

rs1555028206 in KMT5B gene and Dysmorphic features PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 15145825 2004 A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

rs1555028206 in KMT5B gene and Muscle hypotonia PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 15145825 2004 A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin.