rs80357402

Orientation

minus

Stabilized

minus

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

Make rs80357402(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092263

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357402
dbSNP (classic)	rs80357402
ClinGen	rs80357402
ebi	rs80357402
HLI	rs80357402
Exac	rs80357402
Gnomad	rs80357402
Varsome	rs80357402
LitVar	rs80357402
Map	rs80357402
PheGenI	rs80357402
Biobank	rs80357402
1000 genomes	rs80357402
hgdp	rs80357402
ensembl	rs80357402
geneview	rs80357402
scholar	rs80357402
google	rs80357402
pharmgkb	rs80357402
gwascentral	rs80357402
openSNP	rs80357402
23andMe	rs80357402
SNPshot	rs80357402
SNPdbe	rs80357402
MSV3d	rs80357402
GWAS Ctlg	rs80357402

Max Magnitude

6

rs80357402, also known as Q1090X, c.3268C>T and p.Gln1090Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357402(T;T)
Alt	rs80357402(T;T)
Reference	Rs80357402(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244280G>A
CLNSRC	ClinVar
CLNACC	RCV000048119.2, RCV000112042.3,