rs80357148

Orientation

minus

Stabilized

minus

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

Make rs80357148(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43076492

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357148
dbSNP (classic)	rs80357148
ClinGen	rs80357148
ebi	rs80357148
HLI	rs80357148
Exac	rs80357148
Gnomad	rs80357148
Varsome	rs80357148
LitVar	rs80357148
Map	rs80357148
PheGenI	rs80357148
Biobank	rs80357148
1000 genomes	rs80357148
hgdp	rs80357148
ensembl	rs80357148
geneview	rs80357148
scholar	rs80357148
google	rs80357148
pharmgkb	rs80357148
gwascentral	rs80357148
openSNP	rs80357148
23andMe	rs80357148
SNPshot	rs80357148
SNPdbe	rs80357148
MSV3d	rs80357148
GWAS Ctlg	rs80357148

Max Magnitude

6

rs80357148, also known as E1494X, c.4480G>T and p.Glu1494Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357148(A;A) rs80357148(T;T)
Alt	rs80357148(A;A) rs80357148(T;T)
Reference	Rs80357148(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.41228509C>A; NC_000017.10:g.41228509C>T
CLNSRC	ClinVar
CLNACC	RCV000048569.2, RCV000112338.3, RCV000048568.3, RCV000112337.1,