Variant (rsID / SNP)

rs587780033

rs587780033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BARD1. Location: chromosome 2, position 215,645,974. Clinical significance in the table: Pathogenic.

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Reference-table entries

BARD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 2:215645974
Cytoband: 2q35
HGVS: NM_000465.4(BARD1):c.623dup (p.Lys209fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast

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.