rs80357638

minus

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

Make rs80357638(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093514

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357638
dbSNP (classic)	rs80357638
ClinGen	rs80357638
ebi	rs80357638
HLI	rs80357638
Exac	rs80357638
Gnomad	rs80357638
Varsome	rs80357638
LitVar	rs80357638
Map	rs80357638
PheGenI	rs80357638
Biobank	rs80357638
1000 genomes	rs80357638
hgdp	rs80357638
ensembl	rs80357638
geneview	rs80357638
scholar	rs80357638
google	rs80357638
pharmgkb	rs80357638
gwascentral	rs80357638
openSNP	rs80357638
23andMe	rs80357638
SNPshot	rs80357638
SNPdbe	rs80357638
MSV3d	rs80357638
GWAS Ctlg	rs80357638

Max Magnitude

6

rs80357638, also known as 2136delG, c.2017_2017delG and p.Glu673Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357638(-;-)
Alt	rs80357638(-;-)
Reference	Rs80357638(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.41245531delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047684.2, RCV000111752.2,