rs80357443

Orientation

minus

Stabilized

minus

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

Make rs80357443(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43115775

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357443
dbSNP (classic)	rs80357443
ClinGen	rs80357443
ebi	rs80357443
HLI	rs80357443
Exac	rs80357443
Gnomad	rs80357443
Varsome	rs80357443
LitVar	rs80357443
Map	rs80357443
PheGenI	rs80357443
Biobank	rs80357443
1000 genomes	rs80357443
hgdp	rs80357443
ensembl	rs80357443
geneview	rs80357443
scholar	rs80357443
google	rs80357443
pharmgkb	rs80357443
gwascentral	rs80357443
openSNP	rs80357443
23andMe	rs80357443
SNPshot	rs80357443
SNPdbe	rs80357443
MSV3d	rs80357443
GWAS Ctlg	rs80357443

Max Magnitude

6

rs80357443, also known as E29X, c.85G>T and p.Glu29Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357443(T;T)
Alt	rs80357443(T;T)
Reference	Rs80357443(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41267792C>A
CLNSRC	ClinVar
CLNACC	RCV000031288.6, RCV000049175.2,