rs80357061

Orientation

minus

Stabilized

minus

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

Make rs80357061(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43067616

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357061
dbSNP (classic)	rs80357061
ClinGen	rs80357061
ebi	rs80357061
HLI	rs80357061
Exac	rs80357061
Gnomad	rs80357061
Varsome	rs80357061
LitVar	rs80357061
Map	rs80357061
PheGenI	rs80357061
Biobank	rs80357061
1000 genomes	rs80357061
hgdp	rs80357061
ensembl	rs80357061
geneview	rs80357061
scholar	rs80357061
google	rs80357061
pharmgkb	rs80357061
gwascentral	rs80357061
openSNP	rs80357061
23andMe	rs80357061
SNPshot	rs80357061
SNPdbe	rs80357061
MSV3d	rs80357061
GWAS Ctlg	rs80357061

Max Magnitude

6

aka c.5066T>G (p.Met1689Arg)

ClinVar
Risk	rs80357061(C;C) rs80357061(G;G)
Alt	rs80357061(C;C) rs80357061(G;G)
Reference	Rs80357061(T;T)
Significance	Other
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41219633A>C; NC_000017.10:g.41219633A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000031206.5, RCV000048755.3, RCV000163023.2, RCV000048754.2, RCV000112480.1,