rs80356868

Orientation

minus

Stabilized

minus

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

Make rs80356868(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43047661

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356868
dbSNP (classic)	rs80356868
ClinGen	rs80356868
ebi	rs80356868
HLI	rs80356868
Exac	rs80356868
Gnomad	rs80356868
Varsome	rs80356868
LitVar	rs80356868
Map	rs80356868
PheGenI	rs80356868
Biobank	rs80356868
1000 genomes	rs80356868
hgdp	rs80356868
ensembl	rs80356868
geneview	rs80356868
scholar	rs80356868
google	rs80356868
pharmgkb	rs80356868
gwascentral	rs80356868
openSNP	rs80356868
23andMe	rs80356868
SNPshot	rs80356868
SNPdbe	rs80356868
MSV3d	rs80356868
GWAS Ctlg	rs80356868

Max Magnitude

6

rs80356868, also known as E1817X, c.5449G>T and p.Glu1817Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356868(T;T)
Alt	rs80356868(T;T)
Reference	Rs80356868(G;G)
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.41199678C>A
CLNSRC	ClinVar
CLNACC	RCV000048999.2, RCV000112657.3,