rs80357532

minus

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

Make rs80357532(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43090963

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357532
dbSNP (classic)	rs80357532
ClinGen	rs80357532
ebi	rs80357532
HLI	rs80357532
Exac	rs80357532
Gnomad	rs80357532
Varsome	rs80357532
LitVar	rs80357532
Map	rs80357532
PheGenI	rs80357532
Biobank	rs80357532
1000 genomes	rs80357532
hgdp	rs80357532
ensembl	rs80357532
geneview	rs80357532
scholar	rs80357532
google	rs80357532
pharmgkb	rs80357532
gwascentral	rs80357532
openSNP	rs80357532
23andMe	rs80357532
SNPshot	rs80357532
SNPdbe	rs80357532
MSV3d	rs80357532
GWAS Ctlg	rs80357532

Max Magnitude

6

rs80357532, also known as 4282del4, c.4163_4166delAGAG and p.Gln1388_Ser1389?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357532(-;-)
Alt	rs80357532(-;-)
Reference	Rs80357532(AGAG;AGAG)
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.41242980_41242983delCTCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048462.2, RCV000112273.2,