rs80357083

Orientation

minus

Stabilized

minus

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

Make rs80357083(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094279

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357083
dbSNP (classic)	rs80357083
ClinGen	rs80357083
ebi	rs80357083
HLI	rs80357083
Exac	rs80357083
Gnomad	rs80357083
Varsome	rs80357083
LitVar	rs80357083
Map	rs80357083
PheGenI	rs80357083
Biobank	rs80357083
1000 genomes	rs80357083
hgdp	rs80357083
ensembl	rs80357083
geneview	rs80357083
scholar	rs80357083
google	rs80357083
pharmgkb	rs80357083
gwascentral	rs80357083
openSNP	rs80357083
23andMe	rs80357083
SNPshot	rs80357083
SNPdbe	rs80357083
MSV3d	rs80357083
GWAS Ctlg	rs80357083

Max Magnitude

6

rs80357083, also known as E418X, c.1252G>T and p.Glu418Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357083(T;T)
Alt	rs80357083(T;T)
Reference	Rs80357083(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246296C>A
CLNSRC	ClinVar
CLNACC	RCV000047394.2, RCV000111573.3,