rs80357673

minus

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

Make rs80357673(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43067642

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357673
dbSNP (old)	rs80357673
ClinGen	rs80357673
ebi	rs80357673
HLI	rs80357673
Exac	rs80357673
Gnomad	rs80357673
Varsome	rs80357673
Map	rs80357673
PheGenI	rs80357673
Biobank	rs80357673
1000 genomes	rs80357673
hgdp	rs80357673
ensembl	rs80357673
gopubmed	rs80357673
geneview	rs80357673
scholar	rs80357673
google	rs80357673
pharmgkb	rs80357673
gwascentral	rs80357673
openSNP	rs80357673
23andMe	rs80357673
23andMe all	rs80357673
SNP Nexus
SNPshot	rs80357673
SNPdbe	rs80357673
MSV3d	rs80357673
GWAS Ctlg	rs80357673

Max Magnitude

6

rs80357673, also known as 5159delT, c.5040_5040delT and p.Ile1680=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357673(-;-)
Alt	rs80357673(-;-)
Reference	Rs80357673(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.41219659delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048745.2, RCV000112470.2,