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Variant (rsID / SNP)

rs121918557

BCHE

rs121918557 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCHE. Location: chromosome 3, position 165,547,750. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BCHEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:165547750
Cytoband
3q26.1
HGVS
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)
Allele change
Missense_L358I

Associated conditions / phenotypes

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type|Deficiency of butyrylcholinesterase

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.