Variant (rsID / SNP)

rs104893684

rs104893684 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCHE. Location: chromosome 3, position 165,547,818. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BCHEPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:165547818
Cytoband: 3q26.1
HGVS: NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro)
Allele change: Missense_L335P

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.