rs80357284

Orientation

minus

Stabilized

minus

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

Make rs80357284(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43049181

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357284
dbSNP (classic)	rs80357284
ClinGen	rs80357284
ebi	rs80357284
HLI	rs80357284
Exac	rs80357284
Gnomad	rs80357284
Varsome	rs80357284
LitVar	rs80357284
Map	rs80357284
PheGenI	rs80357284
Biobank	rs80357284
1000 genomes	rs80357284
hgdp	rs80357284
ensembl	rs80357284
geneview	rs80357284
scholar	rs80357284
google	rs80357284
pharmgkb	rs80357284
gwascentral	rs80357284
openSNP	rs80357284
23andMe	rs80357284
SNPshot	rs80357284
SNPdbe	rs80357284
MSV3d	rs80357284
GWAS Ctlg	rs80357284

Max Magnitude

6

rs80357284, also known as W1782X, c.5346G>A and p.Trp1782Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357284(A;A)
Alt	rs80357284(A;A)
Reference	Rs80357284(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41201198C>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031239.9, RCV000048952.2, RCV000131866.3, RCV000256177.1,