rs80357564

minus

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

Make rs80357564(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091821

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357564
dbSNP (classic)	rs80357564
ClinGen	rs80357564
ebi	rs80357564
HLI	rs80357564
Exac	rs80357564
Gnomad	rs80357564
Varsome	rs80357564
LitVar	rs80357564
Map	rs80357564
PheGenI	rs80357564
Biobank	rs80357564
1000 genomes	rs80357564
hgdp	rs80357564
ensembl	rs80357564
geneview	rs80357564
scholar	rs80357564
google	rs80357564
pharmgkb	rs80357564
gwascentral	rs80357564
openSNP	rs80357564
23andMe	rs80357564
SNPshot	rs80357564
SNPdbe	rs80357564
MSV3d	rs80357564
GWAS Ctlg	rs80357564

Max Magnitude

6

rs80357564, also known as 3829delT, c.3710_3710delT and p.Ile1237Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357564(-;-)
Alt	rs80357564(-;-)
Reference	Rs80357564(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41243838delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048294.2, RCV000112160.4, RCV000130545.2,