present in Gene: EHMT1
present in Chromosome: 9
Position on Chromosome: 137743418
Alleles of this Variant: C/A;T
rs137852714 in
EHMT1 gene and
KLEEFSTRA SYNDROME 1
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.