Variant (rsID / SNP)

rs587782504

rs587782504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BARD1. Location: chromosome 2, position 215,595,203. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BARD1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 2:215595203
Cytoband: 2q35
HGVS: NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)

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.