rs80356879

Orientation

minus

Stabilized

minus

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

Make rs80356879(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43067635

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356879
dbSNP (classic)	rs80356879
ClinGen	rs80356879
ebi	rs80356879
HLI	rs80356879
Exac	rs80356879
Gnomad	rs80356879
Varsome	rs80356879
LitVar	rs80356879
Map	rs80356879
PheGenI	rs80356879
Biobank	rs80356879
1000 genomes	rs80356879
hgdp	rs80356879
ensembl	rs80356879
geneview	rs80356879
scholar	rs80356879
google	rs80356879
pharmgkb	rs80356879
gwascentral	rs80356879
openSNP	rs80356879
23andMe	rs80356879
SNPshot	rs80356879
SNPdbe	rs80356879
MSV3d	rs80356879
GWAS Ctlg	rs80356879

Max Magnitude

6

rs80356879, also known as E1683X, c.5047G>T and p.Glu1683Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356879(T;T)
Alt	rs80356879(T;T)
Reference	Rs80356879(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.41219652C>A
CLNSRC	ClinVar
CLNACC	RCV000048748.2, RCV000112473.4,