Variant (rsID / SNP)

rs80357730

rs80357730 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,215,365. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BRCA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 17:41215365
Cytoband: 17q21.31
HGVS: NM_007294.4(BRCA1):c.5177_5178del (p.Arg1726fs)

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 1|Breast and/or ovarian cancer

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.