Variant: rs1057516104

present in Gene: LOC105372721;KCNQ2 present in Chromosome: 20 Position on Chromosome: 63433905 Alleles of this Variant: T/C

rs1057516104 in LOC105372721;KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.