rs80357449

Orientation

minus

Stabilized

minus

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

Make rs80357449(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093238

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357449
dbSNP (classic)	rs80357449
ClinGen	rs80357449
ebi	rs80357449
HLI	rs80357449
Exac	rs80357449
Gnomad	rs80357449
Varsome	rs80357449
LitVar	rs80357449
Map	rs80357449
PheGenI	rs80357449
Biobank	rs80357449
1000 genomes	rs80357449
hgdp	rs80357449
ensembl	rs80357449
geneview	rs80357449
scholar	rs80357449
google	rs80357449
pharmgkb	rs80357449
gwascentral	rs80357449
openSNP	rs80357449
23andMe	rs80357449
SNPshot	rs80357449
SNPdbe	rs80357449
MSV3d	rs80357449
GWAS Ctlg	rs80357449

Max Magnitude

6

rs80357449, also known as E765X, c.2293G>T and p.Glu765Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357449(T;T)
Alt	rs80357449(T;T)
Reference	Rs80357449(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41245255C>A
CLNSRC	ClinVar
CLNACC	RCV000047785.2, RCV000111818.4, RCV000162853.2,