Variant: rs767352340 

    present in Gene: NPC2;ISCA2
    present in Chromosome: 14
    Position on Chromosome: 74494869
    Alleles of this Variant: A/G

rs767352340 in NPC2;ISCA2 gene and MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 PMID 29359243 2018 Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.