rs80357746

minus

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

Make rs80357746(G;G)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092486

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357746
dbSNP (classic)	rs80357746
ClinGen	rs80357746
ebi	rs80357746
HLI	rs80357746
Exac	rs80357746
Gnomad	rs80357746
Varsome	rs80357746
LitVar	rs80357746
Map	rs80357746
PheGenI	rs80357746
Biobank	rs80357746
1000 genomes	rs80357746
hgdp	rs80357746
ensembl	rs80357746
geneview	rs80357746
scholar	rs80357746
google	rs80357746
pharmgkb	rs80357746
gwascentral	rs80357746
openSNP	rs80357746
23andMe	rs80357746
SNPshot	rs80357746
SNPdbe	rs80357746
MSV3d	rs80357746
GWAS Ctlg	rs80357746

Max Magnitude

6

rs80357746, also known as 3163insG, c.3044_3045insG and p.Gly1015?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357746(G;G)
Alt	rs80357746(G;G)
Reference	Rs80357746(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244504dupC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111990.3, RCV000131956.2,