rs80357433

Orientation

minus

Stabilized

minus

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

Make rs80357433(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43071225

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357433
dbSNP (classic)	rs80357433
ClinGen	rs80357433
ebi	rs80357433
HLI	rs80357433
Exac	rs80357433
Gnomad	rs80357433
Varsome	rs80357433
LitVar	rs80357433
Map	rs80357433
PheGenI	rs80357433
Biobank	rs80357433
1000 genomes	rs80357433
hgdp	rs80357433
ensembl	rs80357433
geneview	rs80357433
scholar	rs80357433
google	rs80357433
pharmgkb	rs80357433
gwascentral	rs80357433
openSNP	rs80357433
23andMe	rs80357433
SNPshot	rs80357433
SNPdbe	rs80357433
MSV3d	rs80357433
GWAS Ctlg	rs80357433

Max Magnitude

6

rs80357433, also known as Y1563X, c.4689C>G and p.Tyr1563Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357433(G;G)
Alt	rs80357433(G;G)
Reference	Rs80357433(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41223242G>C
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000031188.9, RCV000048631.6, RCV000131835.3, RCV000159994.3, RCV000464295.1,