rs80357405

Orientation

minus

Stabilized

minus

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

Make rs80357405(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092142

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357405
dbSNP (classic)	rs80357405
ClinGen	rs80357405
ebi	rs80357405
HLI	rs80357405
Exac	rs80357405
Gnomad	rs80357405
Varsome	rs80357405
LitVar	rs80357405
Map	rs80357405
PheGenI	rs80357405
Biobank	rs80357405
1000 genomes	rs80357405
hgdp	rs80357405
ensembl	rs80357405
geneview	rs80357405
scholar	rs80357405
google	rs80357405
pharmgkb	rs80357405
gwascentral	rs80357405
openSNP	rs80357405
23andMe	rs80357405
SNPshot	rs80357405
SNPdbe	rs80357405
MSV3d	rs80357405
GWAS Ctlg	rs80357405

Max Magnitude

6

rs80357405, also known as S1130X, c.3389C>G and p.Ser1130Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i6008291

ClinVar
Risk	rs80357405(G;G)
Alt	rs80357405(G;G)
Reference	Rs80357405(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast not provided
Reversed	1
HGVS	NC_000017.10:g.41244159G>C
CLNSRC	ClinVar
CLNACC	RCV000031109.6, RCV000048173.2, RCV000236909.1,