rs80356952

Orientation

minus

Stabilized

minus

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

Make rs80356952(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093901

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356952
dbSNP (classic)	rs80356952
ClinGen	rs80356952
ebi	rs80356952
HLI	rs80356952
Exac	rs80356952
Gnomad	rs80356952
Varsome	rs80356952
LitVar	rs80356952
Map	rs80356952
PheGenI	rs80356952
Biobank	rs80356952
1000 genomes	rs80356952
hgdp	rs80356952
ensembl	rs80356952
geneview	rs80356952
scholar	rs80356952
google	rs80356952
pharmgkb	rs80356952
gwascentral	rs80356952
openSNP	rs80356952
23andMe	rs80356952
SNPshot	rs80356952
SNPdbe	rs80356952
MSV3d	rs80356952
GWAS Ctlg	rs80356952

Max Magnitude

6

rs80356952, also known as Q544X, c.1630C>T and p.Gln544Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356952(T;T)
Alt	rs80356952(T;T)
Reference	Rs80356952(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.41245918G>A
CLNSRC	ClinVar
CLNACC	RCV000047545.2, RCV000111656.3,