rs80357650

minus

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

Make rs80357650(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093290

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357650
dbSNP (classic)	rs80357650
ClinGen	rs80357650
ebi	rs80357650
HLI	rs80357650
Exac	rs80357650
Gnomad	rs80357650
Varsome	rs80357650
LitVar	rs80357650
Map	rs80357650
PheGenI	rs80357650
Biobank	rs80357650
1000 genomes	rs80357650
hgdp	rs80357650
ensembl	rs80357650
geneview	rs80357650
scholar	rs80357650
google	rs80357650
pharmgkb	rs80357650
gwascentral	rs80357650
openSNP	rs80357650
23andMe	rs80357650
SNPshot	rs80357650
SNPdbe	rs80357650
MSV3d	rs80357650
GWAS Ctlg	rs80357650

Max Magnitude

6

rs80357650, also known as 2360delC, c.2241_2241delC and p.Pro747=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357650(-;-)
Alt	rs80357650(-;-)
Reference	Rs80357650(C;C)
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.41245307delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047770.2, RCV000077512.5,