Gene entry
LIPA
lipase A, lysosomal acid type
- Chromosome
- 10
- Cytoband
- 10q23.31
- Variants (rsID)
- 20
LIPA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q23.31). Its official name is “lipase A, lysosomal acid type”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs1051339Benignsingle nucleotide variantWolman disease|Lysosomal acid lipase deficiency
- rs1556478Benignsingle nucleotide variantLysosomal acid lipase deficiency
- rs2297472Benignsingle nucleotide variantWolman disease|Lysosomal acid lipase deficiency
- rs116827211Conflicting interpretationssingle nucleotide variantWolman disease|Lysosomal acid lipase deficiency
- rs2228159Conflicting interpretationssingle nucleotide variantLysosomal acid lipase deficiency|Wolman disease
- rs116928232Pathogenicsingle nucleotide variantLysosomal acid lipase deficiency|LIPA-Related Disorders|Wolman disease|Cholesteryl ester storage disease
- rs121965086Pathogenicsingle nucleotide variantWolman disease|Lysosomal acid lipase deficiency
- rs780495201PathogenicDuplicationLysosomal acid lipase deficiency|Wolman disease|Cholesteryl ester storage disease
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.