rs80357568

minus

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

Make rs80357568(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43104164

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357568
dbSNP (classic)	rs80357568
ClinGen	rs80357568
ebi	rs80357568
HLI	rs80357568
Exac	rs80357568
Gnomad	rs80357568
Varsome	rs80357568
LitVar	rs80357568
Map	rs80357568
PheGenI	rs80357568
Biobank	rs80357568
1000 genomes	rs80357568
hgdp	rs80357568
ensembl	rs80357568
geneview	rs80357568
scholar	rs80357568
google	rs80357568
pharmgkb	rs80357568
gwascentral	rs80357568
openSNP	rs80357568
23andMe	rs80357568
SNPshot	rs80357568
SNPdbe	rs80357568
MSV3d	rs80357568
GWAS Ctlg	rs80357568

Merged from

Rs397509126

Max Magnitude

6

rs80357568, also known as 517delGT, c.398_399delGT and p.Arg133=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80357568(TG;TG) rs80357568(-;-)
Alt	Rs80357568(TG;TG) rs80357568(-;-)
Reference	Rs80357568(GT;GT)
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.41256180_41256181delCA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048404.2, RCV000112478.2,