rs80357397

Orientation

minus

Stabilized

minus

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

Make rs80357397(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091006

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357397
dbSNP (classic)	rs80357397
ClinGen	rs80357397
ebi	rs80357397
HLI	rs80357397
Exac	rs80357397
Gnomad	rs80357397
Varsome	rs80357397
LitVar	rs80357397
Map	rs80357397
PheGenI	rs80357397
Biobank	rs80357397
1000 genomes	rs80357397
hgdp	rs80357397
ensembl	rs80357397
geneview	rs80357397
scholar	rs80357397
google	rs80357397
pharmgkb	rs80357397
gwascentral	rs80357397
openSNP	rs80357397
23andMe	rs80357397
SNPshot	rs80357397
SNPdbe	rs80357397
MSV3d	rs80357397
GWAS Ctlg	rs80357397

Max Magnitude

6

rs80357397, also known as E1375X, c.4123G>T and p.Glu1375Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357397(T;T)
Alt	rs80357397(T;T)
Reference	Rs80357397(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.41243023C>A
CLNSRC	ClinVar
CLNACC	RCV000048452.2, RCV000112266.3,