rs80357725

minus

Geno	Mag	Summary
(-;T)	6	BRCA1 variant considered pathogenic for breast cancer
(T;T)	0	common in clinvar

Make rs80357725(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093202

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357725
dbSNP (classic)	rs80357725
ClinGen	rs80357725
ebi	rs80357725
HLI	rs80357725
Exac	rs80357725
Gnomad	rs80357725
Varsome	rs80357725
LitVar	rs80357725
Map	rs80357725
PheGenI	rs80357725
Biobank	rs80357725
1000 genomes	rs80357725
hgdp	rs80357725
ensembl	rs80357725
geneview	rs80357725
scholar	rs80357725
google	rs80357725
pharmgkb	rs80357725
gwascentral	rs80357725
openSNP	rs80357725
23andMe	rs80357725
SNPshot	rs80357725
SNPdbe	rs80357725
MSV3d	rs80357725
GWAS Ctlg	rs80357725

Max Magnitude

6

rs80357725, also known as 2448delT, c.2329_2329delT and p.Tyr777Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357725(-;-)
Alt	rs80357725(-;-)
Reference	Rs80357725(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41245219delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047801.2, RCV000111826.3, RCV000131932.2,