Variant (rsID / SNP)
rs730881413
rs730881413 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BARD1. Location: chromosome 2, position 215,646,133. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
BARD1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:215646133
- Cytoband
- 2q35
- HGVS
- NM_000465.4(BARD1):c.465A>G (p.Arg155=)
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
