rs80357391

Orientation

minus

Stabilized

minus

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

Make rs80357391(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093514

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357391
dbSNP (classic)	rs80357391
ClinGen	rs80357391
ebi	rs80357391
HLI	rs80357391
Exac	rs80357391
Gnomad	rs80357391
Varsome	rs80357391
LitVar	rs80357391
Map	rs80357391
PheGenI	rs80357391
Biobank	rs80357391
1000 genomes	rs80357391
hgdp	rs80357391
ensembl	rs80357391
geneview	rs80357391
scholar	rs80357391
google	rs80357391
pharmgkb	rs80357391
gwascentral	rs80357391
openSNP	rs80357391
23andMe	rs80357391
SNPshot	rs80357391
SNPdbe	rs80357391
MSV3d	rs80357391
GWAS Ctlg	rs80357391

Max Magnitude

6

rs80357391, also known as E673X, c.2017G>T and p.Glu673Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357391(T;T)
Alt	rs80357391(T;T)
Reference	Rs80357391(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41245531C>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000047683.4, RCV000111751.3, RCV000131903.3, RCV000212166.1,