rs80357982

minus

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

Make rs80357982(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093329

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357982
dbSNP (classic)	rs80357982
ClinGen	rs80357982
ebi	rs80357982
HLI	rs80357982
Exac	rs80357982
Gnomad	rs80357982
Varsome	rs80357982
LitVar	rs80357982
Map	rs80357982
PheGenI	rs80357982
Biobank	rs80357982
1000 genomes	rs80357982
hgdp	rs80357982
ensembl	rs80357982
geneview	rs80357982
scholar	rs80357982
google	rs80357982
pharmgkb	rs80357982
gwascentral	rs80357982
openSNP	rs80357982
23andMe	rs80357982
SNPshot	rs80357982
SNPdbe	rs80357982
MSV3d	rs80357982
GWAS Ctlg	rs80357982

Max Magnitude

6

rs80357982, also known as 2321delA, c.2202_2202delA and p.Lys734Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357982(-;-)
Alt	rs80357982(-;-)
Reference	Rs80357982(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.41245346delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047755.2, RCV000111791.2,