rs121908053

This is a variant in the LCAT gene that changes a threonine to an methionine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

Fish-eye disease (FED); Norum 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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