rs80357513

minus

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

Make rs80357513(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092883

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357513
dbSNP (classic)	rs80357513
ClinGen	rs80357513
ebi	rs80357513
HLI	rs80357513
Exac	rs80357513
Gnomad	rs80357513
Varsome	rs80357513
LitVar	rs80357513
Map	rs80357513
PheGenI	rs80357513
Biobank	rs80357513
1000 genomes	rs80357513
hgdp	rs80357513
ensembl	rs80357513
geneview	rs80357513
scholar	rs80357513
google	rs80357513
pharmgkb	rs80357513
gwascentral	rs80357513
openSNP	rs80357513
23andMe	rs80357513
SNPshot	rs80357513
SNPdbe	rs80357513
MSV3d	rs80357513
GWAS Ctlg	rs80357513

Max Magnitude

6

rs80357513, also known as 2765delTGC, c.2646_2648delTGC and p.Cys882_Ala883?, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357513(-;-)
Alt	rs80357513(-;-)
Reference	Rs80357513(TGC;TGC)
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.41244900_41244902delGCA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047909.2, RCV000083187.5,