rs273903794

minus

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

Make rs273903794(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094567

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273903794
dbSNP (classic)	rs273903794
ClinGen	rs273903794
ebi	rs273903794
HLI	rs273903794
Exac	rs273903794
Gnomad	rs273903794
Varsome	rs273903794
LitVar	rs273903794
Map	rs273903794
PheGenI	rs273903794
Biobank	rs273903794
1000 genomes	rs273903794
hgdp	rs273903794
ensembl	rs273903794
geneview	rs273903794
scholar	rs273903794
google	rs273903794
pharmgkb	rs273903794
gwascentral	rs273903794
openSNP	rs273903794
23andMe	rs273903794
SNPshot	rs273903794
SNPdbe	rs273903794
MSV3d	rs273903794
GWAS Ctlg	rs273903794

Max Magnitude

6

rs273903794, also known as 1083delG, c.964_964delG and p.Ala322Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273903794(-;-)
Alt	rs273903794(-;-)
Reference	Rs273903794(G;G)
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.41246584delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049207.2, RCV000077635.5,