rs80357641

minus

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

Make rs80357641(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43071164

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357641
dbSNP (classic)	rs80357641
ClinGen	rs80357641
ebi	rs80357641
HLI	rs80357641
Exac	rs80357641
Gnomad	rs80357641
Varsome	rs80357641
LitVar	rs80357641
Map	rs80357641
PheGenI	rs80357641
Biobank	rs80357641
1000 genomes	rs80357641
hgdp	rs80357641
ensembl	rs80357641
geneview	rs80357641
scholar	rs80357641
google	rs80357641
pharmgkb	rs80357641
gwascentral	rs80357641
openSNP	rs80357641
23andMe	rs80357641
SNPshot	rs80357641
SNPdbe	rs80357641
MSV3d	rs80357641
GWAS Ctlg	rs80357641

Max Magnitude

6

rs80357641, also known as 4868delAG, c.4749_4750delAG and p.Arg1583_Ala1584SerProfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357641(-;-)
Alt	rs80357641(-;-)
Reference	Rs80357641(AG;AG)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41223181_41223182delCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031190.5, RCV000048650.2,