Variant: rs121434396 

    present in Gene: SLC25A12
    present in Chromosome: 2
    Position on Chromosome: 171787637
    Alleles of this Variant: T/C

rs121434396 in SLC25A12 gene and Hypomyelination, Global Cerebral PMID 24515575 2014 AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

PMID 19641205 2009 AGC1 deficiency associated with global cerebral hypomyelination.