rs80357682

Orientation

minus

Stabilized

minus

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

Make rs80357682(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43106524

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357682
dbSNP (classic)	rs80357682
ClinGen	rs80357682
ebi	rs80357682
HLI	rs80357682
Exac	rs80357682
Gnomad	rs80357682
Varsome	rs80357682
LitVar	rs80357682
Map	rs80357682
PheGenI	rs80357682
Biobank	rs80357682
1000 genomes	rs80357682
hgdp	rs80357682
ensembl	rs80357682
geneview	rs80357682
scholar	rs80357682
google	rs80357682
pharmgkb	rs80357682
gwascentral	rs80357682
openSNP	rs80357682
23andMe	rs80357682
SNPshot	rs80357682
SNPdbe	rs80357682
MSV3d	rs80357682
GWAS Ctlg	rs80357682

Max Magnitude

6

rs80357682, also known as 263delG, c.144_144delG and p.Met48Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357682(-;-)
Alt	rs80357682(-;-)
Reference	Rs80357682(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.41258541delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047480.2, RCV000111883.3,