Variant: rs121918259 

    present in Gene: PNPLA2
    present in Chromosome: 11
    Position on Chromosome: 822494
    Alleles of this Variant: C/T

rs121918259 in PNPLA2 gene and Neutral Lipid Storage Disease with Myopathy PMID 22990388 2012 Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.

PMID 23449549 2013 Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy.

PMID 17187067 2007 The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

PMID 21544567 2011 The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

PMID 18445597 2008 The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding.