rs80357913

minus

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

Make rs80357913(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43093155

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357913
dbSNP (classic)	rs80357913
ClinGen	rs80357913
ebi	rs80357913
HLI	rs80357913
Exac	rs80357913
Gnomad	rs80357913
Varsome	rs80357913
LitVar	rs80357913
Map	rs80357913
PheGenI	rs80357913
Biobank	rs80357913
1000 genomes	rs80357913
hgdp	rs80357913
ensembl	rs80357913
geneview	rs80357913
scholar	rs80357913
google	rs80357913
pharmgkb	rs80357913
gwascentral	rs80357913
openSNP	rs80357913
23andMe	rs80357913
SNPshot	rs80357913
SNPdbe	rs80357913
MSV3d	rs80357913
GWAS Ctlg	rs80357913

Max Magnitude

6

rs80357913, also known as 2495delG, c.2376_2376delG and p.Gly792=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357913(-;-)
Alt	rs80357913(-;-)
Reference	Rs80357913(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41245172delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111837.2,