Variant: rs1554975332 

    present in Gene: PNPLA2
    present in Chromosome: 11
    Position on Chromosome: 819906
    Alleles of this Variant: G/C

rs1554975332 in PNPLA2 gene and Dysmorphic features PMID 25956450 2016 Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.

PMID 24334715 2014 A novel type of human spontaneous coronary atherosclerosis with triglyceride deposition.

PMID 24332944 2014 Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy.

PMID 24836204 2014 A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review.

PMID 19038890 2008 Triglyceride deposit cardiomyovasculopathy.

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