rs80357529

minus

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

Make rs80357529(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43091018

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357529
dbSNP (classic)	rs80357529
ClinGen	rs80357529
ebi	rs80357529
HLI	rs80357529
Exac	rs80357529
Gnomad	rs80357529
Varsome	rs80357529
LitVar	rs80357529
Map	rs80357529
PheGenI	rs80357529
Biobank	rs80357529
1000 genomes	rs80357529
hgdp	rs80357529
ensembl	rs80357529
geneview	rs80357529
scholar	rs80357529
google	rs80357529
pharmgkb	rs80357529
gwascentral	rs80357529
openSNP	rs80357529
23andMe	rs80357529
SNPshot	rs80357529
SNPdbe	rs80357529
MSV3d	rs80357529
GWAS Ctlg	rs80357529

Max Magnitude

6

rs80357529, also known as 4229delTG, c.4110_4111delTG and p.Ser1370_Gly1371SerValfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357529(-;-)
Alt	rs80357529(-;-)
Reference	Rs80357529(TG;TG)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243035_41243036delCA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112259.2,