Variant: rs267607103 

    present in Gene: TBC1D24
    present in Chromosome: 16
    Position on Chromosome: 2496587
    Alleles of this Variant: G/A;C

rs267607103 in TBC1D24 gene and Epilepsy, Myoclonic, Infantile PMID 20727515 2010 TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

PMID 20797691 2010 A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.