rs80357461

Orientation

minus

Stabilized

minus

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

Make rs80357461(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091627

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357461
dbSNP (classic)	rs80357461
ClinGen	rs80357461
ebi	rs80357461
HLI	rs80357461
Exac	rs80357461
Gnomad	rs80357461
Varsome	rs80357461
LitVar	rs80357461
Map	rs80357461
PheGenI	rs80357461
Biobank	rs80357461
1000 genomes	rs80357461
hgdp	rs80357461
ensembl	rs80357461
geneview	rs80357461
scholar	rs80357461
google	rs80357461
pharmgkb	rs80357461
gwascentral	rs80357461
openSNP	rs80357461
23andMe	rs80357461
SNPshot	rs80357461
SNPdbe	rs80357461
MSV3d	rs80357461
GWAS Ctlg	rs80357461

Max Magnitude

6

rs80357461, also known as E1302X, c.3904G>T and p.Glu1302Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357461(A;A) rs80357461(T;T)
Alt	rs80357461(A;A) rs80357461(T;T)
Reference	Rs80357461(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41243644C>A; NC_000017.10:g.41243644C>T
CLNSRC	ClinVar
CLNACC	RCV000048375.2, RCV000083199.5, RCV000484534.1, RCV000213550.1,