rs376685971

This variant is located in the LCAT gene.

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ClinVar annotation

Conflicting Classifications
3 submitters2 publications

Cardiovascular phenotype; not provided; Norum disease;Fish-eye disease

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About LCAT

This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]

View all LCAT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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