Variant: rs1135401813 

    present in Gene: UNC80
    present in Chromosome: 2
    Position on Chromosome: 209825972
    Alleles of this Variant: T/-

rs1135401813 in UNC80 gene and HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 PMID 30167850 2018 Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).