rs80356951

Orientation

minus

Stabilized

minus

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

Make rs80356951(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092986

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356951
dbSNP (classic)	rs80356951
ClinGen	rs80356951
ebi	rs80356951
HLI	rs80356951
Exac	rs80356951
Gnomad	rs80356951
Varsome	rs80356951
LitVar	rs80356951
Map	rs80356951
PheGenI	rs80356951
Biobank	rs80356951
1000 genomes	rs80356951
hgdp	rs80356951
ensembl	rs80356951
geneview	rs80356951
scholar	rs80356951
google	rs80356951
pharmgkb	rs80356951
gwascentral	rs80356951
openSNP	rs80356951
23andMe	rs80356951
SNPshot	rs80356951
SNPdbe	rs80356951
MSV3d	rs80356951
GWAS Ctlg	rs80356951

Max Magnitude

6

rs80356951, also known as E849X, c.2545G>T and p.Glu849Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356951(T;T)
Alt	rs80356951(T;T)
Reference	Rs80356951(G;G)
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.41245003C>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000047872.2, RCV000111887.3, RCV000131874.2,