rs5923
This is a synonymous variant in the LCAT gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
Benign★★★☆
7 submitters2 publicationsCardiovascular phenotype; Fish-eye disease (FED); LCAT deficiency; Norum disease
View on ClinVar →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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