rs1554975332

This variant is located in the PNPLA2 gene.

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ClinVar annotation

Pathogenic★★★☆

3 submitters7 publications

Inborn genetic diseases; Neutral lipid storage myopathy

About PNPLA2

This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]

View all PNPLA2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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