rs80356904

Orientation

minus

Stabilized

minus

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

Make rs80356904(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093910

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356904
dbSNP (classic)	rs80356904
ClinGen	rs80356904
ebi	rs80356904
HLI	rs80356904
Exac	rs80356904
Gnomad	rs80356904
Varsome	rs80356904
LitVar	rs80356904
Map	rs80356904
PheGenI	rs80356904
Biobank	rs80356904
1000 genomes	rs80356904
hgdp	rs80356904
ensembl	rs80356904
geneview	rs80356904
scholar	rs80356904
google	rs80356904
pharmgkb	rs80356904
gwascentral	rs80356904
openSNP	rs80356904
23andMe	rs80356904
SNPshot	rs80356904
SNPdbe	rs80356904
MSV3d	rs80356904
GWAS Ctlg	rs80356904

Max Magnitude

6

rs80356904, also known as Q541X, c.1621C>T and p.Gln541Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356904(T;T)
Alt	rs80356904(T;T)
Reference	Rs80356904(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.41245927G>A
CLNSRC	ClinVar
CLNACC	RCV000047543.2, RCV000077493.5,