rs80357811

Orientation

minus

Stabilized

minus

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

Make rs80357811(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43124064

Gene	BRCA1, NBR2

is a	snp
is	mentioned by
dbSNP	rs80357811
ClinGen	rs80357811
ebi	rs80357811
HLI	rs80357811
Exac	rs80357811
Varsome	rs80357811
Map	rs80357811
PheGenI	rs80357811
hapmap	rs80357811
1000 genomes	rs80357811
hgdp	rs80357811
ensembl	rs80357811
gopubmed	rs80357811
geneview	rs80357811
scholar	rs80357811
google	rs80357811
pharmgkb	rs80357811
gwascentral	rs80357811
openSNP	rs80357811
23andMe	rs80357811
23andMe all	rs80357811
SNP Nexus
SNPshot	rs80357811
SNPdbe	rs80357811
MSV3d	rs80357811
GWAS Ctlg	rs80357811

Max Magnitude

6

rs80357811, also known as 151insC, c.32_33insC and p.Val11?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357811(C;C)
Alt	rs80357811(C;C)
Reference	Rs80357811(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	NBR2 BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41276081_41276082insG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048134.2, RCV000111610.2,