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Variant (rsID / SNP)

rs80358333

BRCA1

rs80358333 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,244,545. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BRCA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
Deletion
Chromosome / position
17:41244545
Cytoband
17q21.31
HGVS
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del)

Associated conditions / phenotypes

Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome

Public references

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