rs80357018

Orientation

minus

Stabilized

minus

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

Make rs80357018(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092131

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357018
dbSNP (classic)	rs80357018
ClinGen	rs80357018
ebi	rs80357018
HLI	rs80357018
Exac	rs80357018
Gnomad	rs80357018
Varsome	rs80357018
LitVar	rs80357018
Map	rs80357018
PheGenI	rs80357018
Biobank	rs80357018
1000 genomes	rs80357018
hgdp	rs80357018
ensembl	rs80357018
geneview	rs80357018
scholar	rs80357018
google	rs80357018
pharmgkb	rs80357018
gwascentral	rs80357018
openSNP	rs80357018
23andMe	rs80357018
SNPshot	rs80357018
SNPdbe	rs80357018
MSV3d	rs80357018
GWAS Ctlg	rs80357018

Max Magnitude

6

rs80357018, also known as E1134X, c.3400G>T and p.Glu1134Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357018(T;T)
Alt	rs80357018(T;T)
Reference	Rs80357018(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41244148C>A
CLNSRC	ClinVar
CLNACC	RCV000031110.8, RCV000048178.5, RCV000203638.2,