Gene entry
PNPLA2
patatin like domain 2, triacylglycerol lipase
- Chromosome
- 11
- Cytoband
- 11p15.5
- Variants (rsID)
- 7
PNPLA2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.5). Its official name is “patatin like domain 2, triacylglycerol lipase”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs1138714Benignsingle nucleotide variantNeutral lipid storage myopathy
- rs140201358Benignsingle nucleotide variantNeutral lipid storage myopathy
- rs142174851Conflicting interpretationssingle nucleotide variantNeutral lipid storage myopathy
- rs201418203Conflicting interpretationssingle nucleotide variantNeutral lipid storage myopathy
- rs182948893Likely benignsingle nucleotide variantNeutral lipid storage myopathy
- rs187668158Likely benignsingle nucleotide variantNeutral lipid storage myopathy
- rs121918259Pathogenicsingle nucleotide variantNeutral lipid storage myopathy
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.