Variant: rs1555735051 

    present in Gene: IGFLR1;KMT2B
    present in Chromosome: 19
    Position on Chromosome: 35738430
    Alleles of this Variant: T/C

rs1555735051 in IGFLR1;KMT2B gene and DYSTONIA 28, CHILDHOOD-ONSET PMID 27992417 2017 Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

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