rs80357804

minus

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

Make rs80357804(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091012

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357804
dbSNP (classic)	rs80357804
ClinGen	rs80357804
ebi	rs80357804
HLI	rs80357804
Exac	rs80357804
Gnomad	rs80357804
Varsome	rs80357804
LitVar	rs80357804
Map	rs80357804
PheGenI	rs80357804
Biobank	rs80357804
1000 genomes	rs80357804
hgdp	rs80357804
ensembl	rs80357804
geneview	rs80357804
scholar	rs80357804
google	rs80357804
pharmgkb	rs80357804
gwascentral	rs80357804
openSNP	rs80357804
23andMe	rs80357804
SNPshot	rs80357804
SNPdbe	rs80357804
MSV3d	rs80357804
GWAS Ctlg	rs80357804

Max Magnitude

6

rs80357804, also known as 4235delTG, c.4116_4117delTG and p.Cys1372_Glu1373TerGlufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357804(-;-)
Alt	rs80357804(-;-)
Reference	Rs80357804(TG;TG)
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.41243029_41243030delCA
CLNSRC	ClinVar
CLNACC	RCV000048448.2, RCV000112264.2,