rs80357933

minus

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

Make rs80357933(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093619

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357933
dbSNP (classic)	rs80357933
ClinGen	rs80357933
ebi	rs80357933
HLI	rs80357933
Exac	rs80357933
Gnomad	rs80357933
Varsome	rs80357933
LitVar	rs80357933
Map	rs80357933
PheGenI	rs80357933
Biobank	rs80357933
1000 genomes	rs80357933
hgdp	rs80357933
ensembl	rs80357933
geneview	rs80357933
scholar	rs80357933
google	rs80357933
pharmgkb	rs80357933
gwascentral	rs80357933
openSNP	rs80357933
23andMe	rs80357933
SNPshot	rs80357933
SNPdbe	rs80357933
MSV3d	rs80357933
GWAS Ctlg	rs80357933

Max Magnitude

6

rs80357933, also known as 2031delG, c.1912_1912delG and p.Glu638Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357933(-;-)
Alt	rs80357933(-;-)
Reference	Rs80357933(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.41245636delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047639.2, RCV000111733.3,