Variant (rsID / SNP)

rs115129687

rs115129687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCHE. Location: chromosome 3, position 165,547,645. 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: 3:165547645
Cytoband: 3q26.1
HGVS: NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg)
Allele change: Missense_G393R

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.