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Variant (rsID / SNP)

rs80356942

BRCA1

rs80356942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,197,781. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BRCA1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
17:41197781
Cytoband
17q21.31
HGVS
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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