rs80357581

minus

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

Make rs80357581(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43051087

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357581
dbSNP (classic)	rs80357581
ClinGen	rs80357581
ebi	rs80357581
HLI	rs80357581
Exac	rs80357581
Gnomad	rs80357581
Varsome	rs80357581
LitVar	rs80357581
Map	rs80357581
PheGenI	rs80357581
Biobank	rs80357581
1000 genomes	rs80357581
hgdp	rs80357581
ensembl	rs80357581
geneview	rs80357581
scholar	rs80357581
google	rs80357581
pharmgkb	rs80357581
gwascentral	rs80357581
openSNP	rs80357581
23andMe	rs80357581
SNPshot	rs80357581
SNPdbe	rs80357581
MSV3d	rs80357581
GWAS Ctlg	rs80357581

Merged from

Rs397509259

Max Magnitude

6

rs80357581, also known as 5427delG, c.5308_5308delG and p.Gly1770=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357581(-;-)
Alt	rs80357581(-;-)
Reference	Rs80357581(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41203102delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048920.2, RCV000112606.3,