Variant: rs1135401732

present in Gene: HNRNPU present in Chromosome: 1 Position on Chromosome: 244859303 Alleles of this Variant: C/A;G;T

rs1135401732 in HNRNPU gene and Epileptic encephalopathy PMID 28815871 2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.