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Variant (rsID / SNP)

rs730881649

BRIP1

rs730881649 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,821,794. Clinical significance in the table: Pathogenic.

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Reference-table entries

BRIP1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
17:59821794
Cytoband
17q23.2
HGVS
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Fanconi anemia complementation group J

Public references

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