rs80357591

Orientation

minus

Stabilized

minus

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

Make rs80357591(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43106489

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357591
dbSNP (classic)	rs80357591
ClinGen	rs80357591
ebi	rs80357591
HLI	rs80357591
Exac	rs80357591
Gnomad	rs80357591
Varsome	rs80357591
LitVar	rs80357591
Map	rs80357591
PheGenI	rs80357591
Biobank	rs80357591
1000 genomes	rs80357591
hgdp	rs80357591
ensembl	rs80357591
geneview	rs80357591
scholar	rs80357591
google	rs80357591
pharmgkb	rs80357591
gwascentral	rs80357591
openSNP	rs80357591
23andMe	rs80357591
SNPshot	rs80357591
SNPdbe	rs80357591
MSV3d	rs80357591
GWAS Ctlg	rs80357591

Max Magnitude

6

rs80357591, also known as 298delA, c.179_179delA and p.Gln60Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357591(-;-)
Alt	rs80357591(-;-)
Reference	Rs80357591(A;A)
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.41258506delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047589.2, RCV000083173.4,