rs80357133

Orientation

minus

Stabilized

minus

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

Make rs80357133(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43099817

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357133
dbSNP (classic)	rs80357133
ClinGen	rs80357133
ebi	rs80357133
HLI	rs80357133
Exac	rs80357133
Gnomad	rs80357133
Varsome	rs80357133
LitVar	rs80357133
Map	rs80357133
PheGenI	rs80357133
Biobank	rs80357133
1000 genomes	rs80357133
hgdp	rs80357133
ensembl	rs80357133
geneview	rs80357133
scholar	rs80357133
google	rs80357133
pharmgkb	rs80357133
gwascentral	rs80357133
openSNP	rs80357133
23andMe	rs80357133
SNPshot	rs80357133
SNPdbe	rs80357133
MSV3d	rs80357133
GWAS Ctlg	rs80357133

Max Magnitude

6

rs80357133, also known as Q169X, c.505C>T and p.Gln169Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010302

ClinVar
Risk	rs80357133(T;T)
Alt	rs80357133(T;T)
Reference	Rs80357133(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.41251834G>A
CLNSRC	ClinVar
CLNACC	RCV000048752.3, RCV000112722.3,