rs80357748

minus

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

Make rs80357748(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43082439

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357748
dbSNP (classic)	rs80357748
ClinGen	rs80357748
ebi	rs80357748
HLI	rs80357748
Exac	rs80357748
Gnomad	rs80357748
Varsome	rs80357748
LitVar	rs80357748
Map	rs80357748
PheGenI	rs80357748
Biobank	rs80357748
1000 genomes	rs80357748
hgdp	rs80357748
ensembl	rs80357748
geneview	rs80357748
scholar	rs80357748
google	rs80357748
pharmgkb	rs80357748
gwascentral	rs80357748
openSNP	rs80357748
23andMe	rs80357748
SNPshot	rs80357748
SNPdbe	rs80357748
MSV3d	rs80357748
GWAS Ctlg	rs80357748

Max Magnitude

6

rs80357748, also known as 4440insG, c.4321_4322insG and p.Asp1441?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357748(G;G)
Alt	rs80357748(G;G)
Reference	Rs80357748(-;-)
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.41234457dupC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048521.2, RCV000112315.3,