Variant (rsID / SNP)

rs1799807

rs1799807 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCHE. Location: chromosome 3, position 165,548,529. 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: 3:165548529
Cytoband: 3q26.1
HGVS: NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
Allele change: Missense_D98G

Associated conditions / phenotypes

Postanesthetic apnea|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.