rs80357005

Orientation

minus

Stabilized

minus

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

Make rs80357005(A;A)

Make rs80357005(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093619

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357005
dbSNP (classic)	rs80357005
ClinGen	rs80357005
ebi	rs80357005
HLI	rs80357005
Exac	rs80357005
Gnomad	rs80357005
Varsome	rs80357005
LitVar	rs80357005
Map	rs80357005
PheGenI	rs80357005
Biobank	rs80357005
1000 genomes	rs80357005
hgdp	rs80357005
ensembl	rs80357005
geneview	rs80357005
scholar	rs80357005
google	rs80357005
pharmgkb	rs80357005
gwascentral	rs80357005
openSNP	rs80357005
23andMe	rs80357005
SNPshot	rs80357005
SNPdbe	rs80357005
MSV3d	rs80357005
GWAS Ctlg	rs80357005

Max Magnitude

6

rs80357005, also known as E638X, c.1912G>T and p.Glu638Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357005(A;A) rs80357005(T;T)
Alt	rs80357005(A;A) rs80357005(T;T)
Reference	Rs80357005(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.41245636C>A; NC_000017.10:g.41245636C>T
CLNSRC	ClinVar
CLNACC	RCV000047638.2, RCV000111732.3, RCV000031014.5, RCV000047637.2,