Variant: rs1555246154 

    present in Gene: MED13L
    present in Chromosome: 12
    Position on Chromosome: 115997221
    Alleles of this Variant: T/C

rs1555246154 in MED13L gene and MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.