rs121918557

This is a variant in the BCHE gene that changes a leucine to an isoleucine.

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ClinVar annotation

Pathogenic★★★☆

6 submitters6 publications

Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type; Deficiency of butyrylcholinesterase (BCHED)

About BCHE

This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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