rs80357426

Orientation

minus

Stabilized

minus

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

Make rs80357426(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093337

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357426
dbSNP (classic)	rs80357426
ClinGen	rs80357426
ebi	rs80357426
HLI	rs80357426
Exac	rs80357426
Gnomad	rs80357426
Varsome	rs80357426
LitVar	rs80357426
Map	rs80357426
PheGenI	rs80357426
Biobank	rs80357426
1000 genomes	rs80357426
hgdp	rs80357426
ensembl	rs80357426
geneview	rs80357426
scholar	rs80357426
google	rs80357426
pharmgkb	rs80357426
gwascentral	rs80357426
openSNP	rs80357426
23andMe	rs80357426
SNPshot	rs80357426
SNPdbe	rs80357426
MSV3d	rs80357426
GWAS Ctlg	rs80357426

Max Magnitude

6

rs80357426, also known as E732X, c.2194G>T and p.Glu732Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357426(T;T)
Alt	rs80357426(T;T)
Reference	Rs80357426(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41245354C>A
CLNSRC	ClinVar
CLNACC	RCV000047751.2, RCV000111786.3, RCV000482657.1,