Variant: rs121908682 

    present in Gene: PLA2G6
    present in Chromosome: 22
    Position on Chromosome: 38132979
    Alleles of this Variant: A/T

rs121908682 in PLA2G6 gene and Infantile Neuroaxonal Dystrophy PMID 16783378 2006 PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

PMID 17033970 2006 PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

PMID 23749988 2013 Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.