Variant (rsID / SNP)

rs730881647

rs730881647 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,876,596. Clinical significance in the table: Pathogenic.

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Reference-table entries

BRIP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 17:59876596
Cytoband: 17q23.2
HGVS: NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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