rs529668674

This variant is located in the LIPA gene.

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ClinVar annotation

Conflicting Classifications
3 submitters3 publications

Lysosomal acid lipase deficiency; Wolman disease; Cardiovascular phenotype

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About LIPA

This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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