rs80357551

minus

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

Make rs80357551(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43099829

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357551
dbSNP (classic)	rs80357551
ClinGen	rs80357551
ebi	rs80357551
HLI	rs80357551
Exac	rs80357551
Gnomad	rs80357551
Varsome	rs80357551
LitVar	rs80357551
Map	rs80357551
PheGenI	rs80357551
Biobank	rs80357551
1000 genomes	rs80357551
hgdp	rs80357551
ensembl	rs80357551
geneview	rs80357551
scholar	rs80357551
google	rs80357551
pharmgkb	rs80357551
gwascentral	rs80357551
openSNP	rs80357551
23andMe	rs80357551
SNPshot	rs80357551
SNPdbe	rs80357551
MSV3d	rs80357551
GWAS Ctlg	rs80357551

Max Magnitude

6

rs80357551, also known as 612delC, c.493_493delC and p.Leu165Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357551(-;-)
Alt	rs80357551(-;-)
Reference	Rs80357551(C;C)
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.41251846delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048701.2, RCV000112719.2,