rs80357847

minus

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

Make rs80357847(AG;AG)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43090961

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357847
dbSNP (classic)	rs80357847
ClinGen	rs80357847
ebi	rs80357847
HLI	rs80357847
Exac	rs80357847
Gnomad	rs80357847
Varsome	rs80357847
LitVar	rs80357847
Map	rs80357847
PheGenI	rs80357847
Biobank	rs80357847
1000 genomes	rs80357847
hgdp	rs80357847
ensembl	rs80357847
geneview	rs80357847
scholar	rs80357847
google	rs80357847
pharmgkb	rs80357847
gwascentral	rs80357847
openSNP	rs80357847
23andMe	rs80357847
SNPshot	rs80357847
SNPdbe	rs80357847
MSV3d	rs80357847
GWAS Ctlg	rs80357847

Max Magnitude

6

rs80357847, also known as 4286insAG, c.4167_4168insAG and p.Ser1389_Asp1390?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357847(AG;AG)
Alt	rs80357847(AG;AG)
Reference	Rs80357847(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41242978_41242979insCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112274.2,