rs80357424

Orientation

minus

Stabilized

minus

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

Make rs80357424(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092353

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357424
dbSNP (classic)	rs80357424
ClinGen	rs80357424
ebi	rs80357424
HLI	rs80357424
Exac	rs80357424
Gnomad	rs80357424
Varsome	rs80357424
LitVar	rs80357424
Map	rs80357424
PheGenI	rs80357424
Biobank	rs80357424
1000 genomes	rs80357424
hgdp	rs80357424
ensembl	rs80357424
geneview	rs80357424
scholar	rs80357424
google	rs80357424
pharmgkb	rs80357424
gwascentral	rs80357424
openSNP	rs80357424
23andMe	rs80357424
SNPshot	rs80357424
SNPdbe	rs80357424
MSV3d	rs80357424
GWAS Ctlg	rs80357424

Max Magnitude

6

rs80357424, also known as E1060X, c.3178G>T and p.Glu1060Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010180

ClinVar
Risk	rs80357424(C;C) rs80357424(T;T)
Alt	rs80357424(C;C) rs80357424(T;T)
Reference	Rs80357424(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244370C>A; NC_000017.10:g.41244370C>G
CLNSRC	ClinVar
CLNACC	RCV000048092.5, RCV000077540.7, RCV000212171.1, RCV000448786.1, RCV000238712.1,