rs80357960

minus

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

Make rs80357960(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093268

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357960
dbSNP (classic)	rs80357960
ClinGen	rs80357960
ebi	rs80357960
HLI	rs80357960
Exac	rs80357960
Gnomad	rs80357960
Varsome	rs80357960
LitVar	rs80357960
Map	rs80357960
PheGenI	rs80357960
Biobank	rs80357960
1000 genomes	rs80357960
hgdp	rs80357960
ensembl	rs80357960
geneview	rs80357960
scholar	rs80357960
google	rs80357960
pharmgkb	rs80357960
gwascentral	rs80357960
openSNP	rs80357960
23andMe	rs80357960
SNPshot	rs80357960
SNPdbe	rs80357960
MSV3d	rs80357960
GWAS Ctlg	rs80357960

Max Magnitude

6

rs80357960, also known as 2382delG, c.2263_2263delG and p.Glu755Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357960(-;-)
Alt	rs80357960(-;-)
Reference	Rs80357960(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.41245285delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047777.2, RCV000111811.3,