rs80357543

minus

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

Make rs80357543(GT;GT)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094204

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357543
dbSNP (classic)	rs80357543
ClinGen	rs80357543
ebi	rs80357543
HLI	rs80357543
Exac	rs80357543
Gnomad	rs80357543
Varsome	rs80357543
LitVar	rs80357543
Map	rs80357543
PheGenI	rs80357543
Biobank	rs80357543
1000 genomes	rs80357543
hgdp	rs80357543
ensembl	rs80357543
geneview	rs80357543
scholar	rs80357543
google	rs80357543
pharmgkb	rs80357543
gwascentral	rs80357543
openSNP	rs80357543
23andMe	rs80357543
SNPshot	rs80357543
SNPdbe	rs80357543
MSV3d	rs80357543
GWAS Ctlg	rs80357543

Max Magnitude

6

rs80357543, also known as 1445insGT, c.1326_1327insGT and p.Cys442_Lys443?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357543(GT;GT)
Alt	rs80357543(GT;GT)
Reference	Rs80357543(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246222_41246223dupAC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000077061.4,