rs80357502

minus

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

Make rs80357502(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092551

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357502
dbSNP (classic)	rs80357502
ClinGen	rs80357502
ebi	rs80357502
HLI	rs80357502
Exac	rs80357502
Gnomad	rs80357502
Varsome	rs80357502
LitVar	rs80357502
Map	rs80357502
PheGenI	rs80357502
Biobank	rs80357502
1000 genomes	rs80357502
hgdp	rs80357502
ensembl	rs80357502
geneview	rs80357502
scholar	rs80357502
google	rs80357502
pharmgkb	rs80357502
gwascentral	rs80357502
openSNP	rs80357502
23andMe	rs80357502
SNPshot	rs80357502
SNPdbe	rs80357502
MSV3d	rs80357502
GWAS Ctlg	rs80357502

Max Magnitude

6

rs80357502, also known as 3099delT, c.2980_2980delT and p.Cys994Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357502(-;-)
Alt	rs80357502(-;-)
Reference	Rs80357502(T;T)
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.41244568delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048029.2, RCV000111974.3,