Variant: rs730882246 

    present in Gene: ISCA2;NPC2
    present in Chromosome: 14
    Position on Chromosome: 74494329
    Alleles of this Variant: G/A

rs730882246 in ISCA2;NPC2 gene and MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 PMID 25539947 2015 ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

rs730882246 in ISCA2;NPC2 gene and Multiple Mitochondrial Dysfunctions Syndrome PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 25539947 2015 ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.