Variant (rsID / SNP)

rs115017300

rs115017300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCHE. Location: chromosome 3, position 165,547,330. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BCHEUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:165547330
Cytoband: 3q26.1
HGVS: NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp)
Allele change: Missense_R498W

Associated conditions / phenotypes

Deficiency of butyrylcholinesterase

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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