rs80357010

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	Normal
(C;T)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80357010(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094051

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357010
dbSNP (classic)	rs80357010
ClinGen	rs80357010
ebi	rs80357010
HLI	rs80357010
Exac	rs80357010
Gnomad	rs80357010
Varsome	rs80357010
LitVar	rs80357010
Map	rs80357010
PheGenI	rs80357010
Biobank	rs80357010
1000 genomes	rs80357010
hgdp	rs80357010
ensembl	rs80357010
geneview	rs80357010
scholar	rs80357010
google	rs80357010
pharmgkb	rs80357010
gwascentral	rs80357010
openSNP	rs80357010
23andMe	rs80357010
SNPshot	rs80357010
SNPdbe	rs80357010
MSV3d	rs80357010
GWAS Ctlg	rs80357010

Max Magnitude

6

rs80357010, also known as Q494X, c.1480C>T and p.Gln494Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010261

ClinVar
Risk	rs80357010(T;T)
Alt	rs80357010(T;T)
Reference	Rs80357010(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41246068G>A
CLNSRC	ClinVar
CLNACC	RCV000030996.7, RCV000047490.3, RCV000223308.1,