rs80357178

Orientation

minus

Stabilized

minus

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

Make rs80357178(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091474

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357178
dbSNP (classic)	rs80357178
ClinGen	rs80357178
ebi	rs80357178
HLI	rs80357178
Exac	rs80357178
Gnomad	rs80357178
Varsome	rs80357178
LitVar	rs80357178
Map	rs80357178
PheGenI	rs80357178
Biobank	rs80357178
1000 genomes	rs80357178
hgdp	rs80357178
ensembl	rs80357178
geneview	rs80357178
scholar	rs80357178
google	rs80357178
pharmgkb	rs80357178
gwascentral	rs80357178
openSNP	rs80357178
23andMe	rs80357178
SNPshot	rs80357178
SNPdbe	rs80357178
MSV3d	rs80357178
GWAS Ctlg	rs80357178

Max Magnitude

6

rs80357178, also known as E1353X, c.4057G>T and p.Glu1353Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357178(T;T)
Alt	rs80357178(T;T)
Reference	Rs80357178(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243491C>A
CLNSRC	ClinVar
CLNACC	RCV000048427.2, RCV000112236.3,