rs80357723

minus

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

Make rs80357723(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093774

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357723
dbSNP (classic)	rs80357723
ClinGen	rs80357723
ebi	rs80357723
HLI	rs80357723
Exac	rs80357723
Gnomad	rs80357723
Varsome	rs80357723
LitVar	rs80357723
Map	rs80357723
PheGenI	rs80357723
Biobank	rs80357723
1000 genomes	rs80357723
hgdp	rs80357723
ensembl	rs80357723
geneview	rs80357723
scholar	rs80357723
google	rs80357723
pharmgkb	rs80357723
gwascentral	rs80357723
openSNP	rs80357723
23andMe	rs80357723
SNPshot	rs80357723
SNPdbe	rs80357723
MSV3d	rs80357723
GWAS Ctlg	rs80357723

Max Magnitude

6

rs80357723, also known as 1876delC, c.1757_1757delC and p.Pro586Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357723(-;-)
Alt	rs80357723(-;-)
Reference	Rs80357723(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41245791delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047578.2, RCV000111675.3, RCV000132331.3,