rs80357817

minus

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

Make rs80357817(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094019

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357817
dbSNP (classic)	rs80357817
ClinGen	rs80357817
ebi	rs80357817
HLI	rs80357817
Exac	rs80357817
Gnomad	rs80357817
Varsome	rs80357817
LitVar	rs80357817
Map	rs80357817
PheGenI	rs80357817
Biobank	rs80357817
1000 genomes	rs80357817
hgdp	rs80357817
ensembl	rs80357817
geneview	rs80357817
scholar	rs80357817
google	rs80357817
pharmgkb	rs80357817
gwascentral	rs80357817
openSNP	rs80357817
23andMe	rs80357817
SNPshot	rs80357817
SNPdbe	rs80357817
MSV3d	rs80357817
GWAS Ctlg	rs80357817

Max Magnitude

6

rs80357817, also known as 1630insG, c.1511_1512insG and p.Arg504?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357817(G;G)
Alt	rs80357817(G;G)
Reference	Rs80357817(-;-)
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.41246037dupC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047508.2, RCV000111638.3,