rs80357162

Orientation

minus

Stabilized

minus

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

Make rs80357162(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091842

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357162
dbSNP (classic)	rs80357162
ClinGen	rs80357162
ebi	rs80357162
HLI	rs80357162
Exac	rs80357162
Gnomad	rs80357162
Varsome	rs80357162
LitVar	rs80357162
Map	rs80357162
PheGenI	rs80357162
Biobank	rs80357162
1000 genomes	rs80357162
hgdp	rs80357162
ensembl	rs80357162
geneview	rs80357162
scholar	rs80357162
google	rs80357162
pharmgkb	rs80357162
gwascentral	rs80357162
openSNP	rs80357162
23andMe	rs80357162
SNPshot	rs80357162
SNPdbe	rs80357162
MSV3d	rs80357162
GWAS Ctlg	rs80357162

Max Magnitude

6

rs80357162, also known as L1230X, c.3689T>G and p.Leu1230Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357162(G;G)
Alt	rs80357162(G;G)
Reference	Rs80357162(T;T)
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.41243859A>C
CLNSRC	ClinVar
CLNACC	RCV000048281.2, RCV000112154.4,