Variant: rs1554879633 

    present in Gene: EHMT1
    present in Chromosome: 9
    Position on Chromosome: 137778049
    Alleles of this Variant: -/G

rs1554879633 in EHMT1 gene and Muscle hypotonia PMID 24779060 2014 If not Angelman, what is it? A review of Angelman-like syndromes.

PMID 29160022 2018 First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.

PMID 26808425 2016 A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

PMID 15805155 2005 Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 22670141 2012 Update on Kleefstra Syndrome.

PMID 16826528 2006 Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

PMID 19264732 2009 Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.