rs80356999

Orientation

minus

Stabilized

minus

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

Make rs80356999(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093256

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356999
dbSNP (classic)	rs80356999
ClinGen	rs80356999
ebi	rs80356999
HLI	rs80356999
Exac	rs80356999
Gnomad	rs80356999
Varsome	rs80356999
LitVar	rs80356999
Map	rs80356999
PheGenI	rs80356999
Biobank	rs80356999
1000 genomes	rs80356999
hgdp	rs80356999
ensembl	rs80356999
geneview	rs80356999
scholar	rs80356999
google	rs80356999
pharmgkb	rs80356999
gwascentral	rs80356999
openSNP	rs80356999
23andMe	rs80356999
SNPshot	rs80356999
SNPdbe	rs80356999
MSV3d	rs80356999
GWAS Ctlg	rs80356999

Max Magnitude

6

rs80356999, also known as Q759X, c.2275C>T and p.Gln759Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356999(T;T)
Alt	rs80356999(T;T)
Reference	Rs80356999(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.41245273G>A
CLNSRC	ClinVar
CLNACC	RCV000047780.2, RCV000111814.2,