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Variant (rsID / SNP)

rs28933390

BCHE

rs28933390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCHE. Location: chromosome 3, position 165,547,569. 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
3:165547569
Cytoband
3q26.1
HGVS
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)
Allele change
Missense_G418V

Associated conditions / phenotypes

BCHE, fluoride 2|Deficiency of butyrylcholinesterase

Public references

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