rs80357401

Orientation

minus

Stabilized

minus

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

Make rs80357401(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43070933

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357401
dbSNP (classic)	rs80357401
ClinGen	rs80357401
ebi	rs80357401
HLI	rs80357401
Exac	rs80357401
Gnomad	rs80357401
Varsome	rs80357401
LitVar	rs80357401
Map	rs80357401
PheGenI	rs80357401
Biobank	rs80357401
1000 genomes	rs80357401
hgdp	rs80357401
ensembl	rs80357401
geneview	rs80357401
scholar	rs80357401
google	rs80357401
pharmgkb	rs80357401
gwascentral	rs80357401
openSNP	rs80357401
23andMe	rs80357401
SNPshot	rs80357401
SNPdbe	rs80357401
MSV3d	rs80357401
GWAS Ctlg	rs80357401

Max Magnitude

6

rs80357401, also known as E1661X, c.4981G>T and p.Glu1661Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357401(A;A) rs80357401(T;T)
Alt	rs80357401(A;A) rs80357401(T;T)
Reference	Rs80357401(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41222950C>A; NC_000017.10:g.41222950C>T
CLNSRC	ClinVar
CLNACC	RCV000048717.2, RCV000112440.3, RCV000416506.1,