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Variant (rsID / SNP)

rs786201701

BRIP1

rs786201701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,861,707. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BRIP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:59861707
Cytoband
17q23.2
HGVS
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
Allele change
Missense_V518I

Associated conditions / phenotypes

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

Public references

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