rs80357762

Orientation

minus

Stabilized

minus

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

Make rs80357762(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43099827

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357762
dbSNP (classic)	rs80357762
ClinGen	rs80357762
ebi	rs80357762
HLI	rs80357762
Exac	rs80357762
Gnomad	rs80357762
Varsome	rs80357762
LitVar	rs80357762
Map	rs80357762
PheGenI	rs80357762
Biobank	rs80357762
1000 genomes	rs80357762
hgdp	rs80357762
ensembl	rs80357762
geneview	rs80357762
scholar	rs80357762
google	rs80357762
pharmgkb	rs80357762
gwascentral	rs80357762
openSNP	rs80357762
23andMe	rs80357762
SNPshot	rs80357762
SNPdbe	rs80357762
MSV3d	rs80357762
GWAS Ctlg	rs80357762

Max Magnitude

6

rs80357762, also known as 613insT, c.494_495insT and p.Leu165?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357762(T;T)
Alt	rs80357762(T;T)
Reference	Rs80357762(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41251845dupA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048706.2, RCV000112720.3, RCV000220672.1,