rs80357161

Orientation

minus

Stabilized

minus

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

Make rs80357161(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092419

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357161
dbSNP (classic)	rs80357161
ClinGen	rs80357161
ebi	rs80357161
HLI	rs80357161
Exac	rs80357161
Gnomad	rs80357161
Varsome	rs80357161
LitVar	rs80357161
Map	rs80357161
PheGenI	rs80357161
Biobank	rs80357161
1000 genomes	rs80357161
hgdp	rs80357161
ensembl	rs80357161
geneview	rs80357161
scholar	rs80357161
google	rs80357161
pharmgkb	rs80357161
gwascentral	rs80357161
openSNP	rs80357161
23andMe	rs80357161
SNPshot	rs80357161
SNPdbe	rs80357161
MSV3d	rs80357161
GWAS Ctlg	rs80357161

Max Magnitude

6

rs80357161, also known as E1038X, c.3112G>T and p.Glu1038Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357161(T;T)
Alt	rs80357161(T;T)
Reference	Rs80357161(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244436C>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031090.6, RCV000048073.2, RCV000131907.2,