rs80357259

Orientation

minus

Stabilized

minus

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

Make rs80357259(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091012

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357259
dbSNP (classic)	rs80357259
ClinGen	rs80357259
ebi	rs80357259
HLI	rs80357259
Exac	rs80357259
Gnomad	rs80357259
Varsome	rs80357259
LitVar	rs80357259
Map	rs80357259
PheGenI	rs80357259
Biobank	rs80357259
1000 genomes	rs80357259
hgdp	rs80357259
ensembl	rs80357259
geneview	rs80357259
scholar	rs80357259
google	rs80357259
pharmgkb	rs80357259
gwascentral	rs80357259
openSNP	rs80357259
23andMe	rs80357259
SNPshot	rs80357259
SNPdbe	rs80357259
MSV3d	rs80357259
GWAS Ctlg	rs80357259

Max Magnitude

6

rs80357259, also known as E1373X, c.4117G>T and p.Glu1373Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357259(T;T)
Alt	rs80357259(T;T)
Reference	Rs80357259(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41243029C>A
CLNSRC	ClinVar
CLNACC	RCV000031150.7, RCV000048449.2, RCV000074589.7, RCV000162872.2,