rs80356907

Orientation

minus

Stabilized

minus

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

Make rs80356907(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093586

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356907
dbSNP (classic)	rs80356907
ClinGen	rs80356907
ebi	rs80356907
HLI	rs80356907
Exac	rs80356907
Gnomad	rs80356907
Varsome	rs80356907
LitVar	rs80356907
Map	rs80356907
PheGenI	rs80356907
Biobank	rs80356907
1000 genomes	rs80356907
hgdp	rs80356907
ensembl	rs80356907
geneview	rs80356907
scholar	rs80356907
google	rs80356907
pharmgkb	rs80356907
gwascentral	rs80356907
openSNP	rs80356907
23andMe	rs80356907
SNPshot	rs80356907
SNPdbe	rs80356907
MSV3d	rs80356907
GWAS Ctlg	rs80356907

Max Magnitude

6

rs80356907, also known as E649X, c.1945G>T and p.Glu649Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356907(C;C) rs80356907(T;T)
Alt	rs80356907(C;C) rs80356907(T;T)
Reference	Rs80356907(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41245603C>A; NC_000017.10:g.41245603C>G
CLNSRC	ClinVar
CLNACC	RCV000047649.2, RCV000111737.3, RCV000047648.3, RCV000111736.1,