rs80357233

Orientation

minus

Stabilized

minus

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

Make rs80357233(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093393

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357233
dbSNP (classic)	rs80357233
ClinGen	rs80357233
ebi	rs80357233
HLI	rs80357233
Exac	rs80357233
Gnomad	rs80357233
Varsome	rs80357233
LitVar	rs80357233
Map	rs80357233
PheGenI	rs80357233
Biobank	rs80357233
1000 genomes	rs80357233
hgdp	rs80357233
ensembl	rs80357233
geneview	rs80357233
scholar	rs80357233
google	rs80357233
pharmgkb	rs80357233
gwascentral	rs80357233
openSNP	rs80357233
23andMe	rs80357233
SNPshot	rs80357233
SNPdbe	rs80357233
MSV3d	rs80357233
GWAS Ctlg	rs80357233

Max Magnitude

6

rs80357233, also known as S713X, c.2138C>G and p.Ser713Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357233(A;A) rs80357233(G;G)
Alt	rs80357233(A;A) rs80357233(G;G)
Reference	Rs80357233(C;C)
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.41245410G>C; NC_000017.10:g.41245410G>T
CLNSRC	ClinVar
CLNACC	RCV000031032.8, RCV000047730.4, RCV000074571.7, RCV000162851.2, RCV000241146.2,