rs80357503

minus

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

Make rs80357503(G;G)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43093092

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357503
dbSNP (classic)	rs80357503
ClinGen	rs80357503
ebi	rs80357503
HLI	rs80357503
Exac	rs80357503
Gnomad	rs80357503
Varsome	rs80357503
LitVar	rs80357503
Map	rs80357503
PheGenI	rs80357503
Biobank	rs80357503
1000 genomes	rs80357503
hgdp	rs80357503
ensembl	rs80357503
geneview	rs80357503
scholar	rs80357503
google	rs80357503
pharmgkb	rs80357503
gwascentral	rs80357503
openSNP	rs80357503
23andMe	rs80357503
SNPshot	rs80357503
SNPdbe	rs80357503
MSV3d	rs80357503
GWAS Ctlg	rs80357503

Max Magnitude

6

rs80357503, also known as 2557insG, c.2438_2439insG and p.Gly813?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357503(G;G)
Alt	rs80357503(G;G)
Reference	Rs80357503(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41245110dupC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111863.3,