rs80357904

minus

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

Make rs80357904(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091558

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357904
dbSNP (classic)	rs80357904
ClinGen	rs80357904
ebi	rs80357904
HLI	rs80357904
Exac	rs80357904
Gnomad	rs80357904
Varsome	rs80357904
LitVar	rs80357904
Map	rs80357904
PheGenI	rs80357904
Biobank	rs80357904
1000 genomes	rs80357904
hgdp	rs80357904
ensembl	rs80357904
geneview	rs80357904
scholar	rs80357904
google	rs80357904
pharmgkb	rs80357904
gwascentral	rs80357904
openSNP	rs80357904
23andMe	rs80357904
SNPshot	rs80357904
SNPdbe	rs80357904
MSV3d	rs80357904
GWAS Ctlg	rs80357904

Max Magnitude

6

rs80357904, also known as 4092delA, c.3973_3973delA and p.Arg1325Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357904(-;-)
Alt	rs80357904(-;-)
Reference	Rs80357904(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.41243575delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048397.2, RCV000112222.3,