rs80357808

minus

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

Make rs80357808(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092089

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357808
dbSNP (classic)	rs80357808
ClinGen	rs80357808
ebi	rs80357808
HLI	rs80357808
Exac	rs80357808
Gnomad	rs80357808
Varsome	rs80357808
LitVar	rs80357808
Map	rs80357808
PheGenI	rs80357808
Biobank	rs80357808
1000 genomes	rs80357808
hgdp	rs80357808
ensembl	rs80357808
geneview	rs80357808
scholar	rs80357808
google	rs80357808
pharmgkb	rs80357808
gwascentral	rs80357808
openSNP	rs80357808
23andMe	rs80357808
SNPshot	rs80357808
SNPdbe	rs80357808
MSV3d	rs80357808
GWAS Ctlg	rs80357808

Max Magnitude

6

rs80357808, also known as c.3442delG, 3561delG, c.3442_3442delG and p.Glu1148Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357808(-;-)
Alt	rs80357808(-;-)
Reference	Rs80357808(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244106delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031111.6, RCV000048199.2, RCV000130808.3,