Variant: rs1288484976 

    present in Gene: CACNA1H
    present in Chromosome: 16
    Position on Chromosome: 1202393
    Alleles of this Variant: C/T

rs1288484976 in CACNA1H gene and EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 PMID 30197081 2018 Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.

PMID 24277868 2014 Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.

PMID 12891677 2003 Association between genetic variation of CACNA1H and childhood absence epilepsy.