Variant (rsID / SNP)

rs121918556

rs121918556 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCHE. Location: chromosome 3, position 165,504,043. Clinical significance in the table: Pathogenic.

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Reference-table entries

BCHEPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:165504043
Cytoband: 3q26.1
HGVS: NM_000055.4(BCHE):c.1574A>T (p.Glu525Val)
Allele change: Missense_E525V

Associated conditions / phenotypes

Bche, j variant

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.