Gene entry
BCHE
butyrylcholinesterase
- Chromosome
- 3
- Cytoband
- 3q26.1
- Variants (rsID)
- 24
BCHE is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q26.1). Its official name is “butyrylcholinesterase”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs3495Benignsingle nucleotide variantDeficiency of butyrylcholinesterase
- rs115129687Conflicting interpretationssingle nucleotide variantDeficiency of butyrylcholinesterase
- rs121918557Conflicting interpretationssingle nucleotide variantButyrylcholinesterase deficiency, fluoride-resistant, japanese type|Deficiency of butyrylcholinesterase
- rs28933389Conflicting interpretationssingle nucleotide variantBCHE, flouride 1|Deficiency of butyrylcholinesterase
- rs28933390Conflicting interpretationssingle nucleotide variantBCHE, fluoride 2|Deficiency of butyrylcholinesterase
- rs104893684Pathogenicsingle nucleotide variantDeficiency of butyrylcholinesterase
- rs121918556Pathogenicsingle nucleotide variantBche, j variant
- rs121918558Pathogenicsingle nucleotide variantDeficiency of butyrylcholinesterase
- rs1799807Pathogenicsingle nucleotide variantPostanesthetic apnea|Deficiency of butyrylcholinesterase
- rs115017300Uncertain significancesingle nucleotide variantDeficiency of butyrylcholinesterase
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.