rs80356889

Orientation

minus

Stabilized

minus

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

Make rs80356889(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093532

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356889
dbSNP (classic)	rs80356889
ClinGen	rs80356889
ebi	rs80356889
HLI	rs80356889
Exac	rs80356889
Gnomad	rs80356889
Varsome	rs80356889
LitVar	rs80356889
Map	rs80356889
PheGenI	rs80356889
Biobank	rs80356889
1000 genomes	rs80356889
hgdp	rs80356889
ensembl	rs80356889
geneview	rs80356889
scholar	rs80356889
google	rs80356889
pharmgkb	rs80356889
gwascentral	rs80356889
openSNP	rs80356889
23andMe	rs80356889
SNPshot	rs80356889
SNPdbe	rs80356889
MSV3d	rs80356889
GWAS Ctlg	rs80356889

Max Magnitude

6

rs80356889, also known as Q667X, c.1999C>T and p.Gln667Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356889(T;T)
Alt	rs80356889(T;T)
Reference	Rs80356889(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41245549G>A
CLNSRC	ClinVar
CLNACC	RCV000047674.2, RCV000111748.2, RCV000162848.1, RCV000236983.1,