Variant (rsID / SNP)

rs864622166

rs864622166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,885,880. Clinical significance in the table: Pathogenic.

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Reference-table entries

BRIP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 17:59885880
Cytoband: 17q23.2
HGVS: NM_032043.3(BRIP1):c.866del (p.Val289fs)

Associated conditions / phenotypes

Familial cancer of breast|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.