rs80357151

Orientation

minus

Stabilized

minus

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

Make rs80357151(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43074350

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357151
dbSNP (classic)	rs80357151
ClinGen	rs80357151
ebi	rs80357151
HLI	rs80357151
Exac	rs80357151
Gnomad	rs80357151
Varsome	rs80357151
LitVar	rs80357151
Map	rs80357151
PheGenI	rs80357151
Biobank	rs80357151
1000 genomes	rs80357151
hgdp	rs80357151
ensembl	rs80357151
geneview	rs80357151
scholar	rs80357151
google	rs80357151
pharmgkb	rs80357151
gwascentral	rs80357151
openSNP	rs80357151
23andMe	rs80357151
SNPshot	rs80357151
SNPdbe	rs80357151
MSV3d	rs80357151
GWAS Ctlg	rs80357151

Max Magnitude

6

rs80357151, also known as Y1552X, c.4656C>G and p.Tyr1552Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357151(G;G)
Alt	rs80357151(G;G)
Reference	Rs80357151(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41226367G>C
CLNSRC	ClinVar
CLNACC	RCV000048620.3, RCV000112374.3,