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Variant (rsID / SNP)

rs80357641

BRCA1

rs80357641 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,223,181. Clinical significance in the table: Pathogenic.

Reference-table entries

BRCA1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Microsatellite
Chromosome / position
17:41223181
Cytoband
17q21.31
HGVS
NM_007294.4(BRCA1):c.4749_4750del (p.Arg1583fs)

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 1

Public references

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