rs80357035

Orientation

minus

Stabilized

minus

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

Make rs80357035(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092821

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357035
dbSNP (classic)	rs80357035
ClinGen	rs80357035
ebi	rs80357035
HLI	rs80357035
Exac	rs80357035
Gnomad	rs80357035
Varsome	rs80357035
LitVar	rs80357035
Map	rs80357035
PheGenI	rs80357035
Biobank	rs80357035
1000 genomes	rs80357035
hgdp	rs80357035
ensembl	rs80357035
geneview	rs80357035
scholar	rs80357035
google	rs80357035
pharmgkb	rs80357035
gwascentral	rs80357035
openSNP	rs80357035
23andMe	rs80357035
SNPshot	rs80357035
SNPdbe	rs80357035
MSV3d	rs80357035
GWAS Ctlg	rs80357035

Max Magnitude

6

rs80357035, also known as E904X, c.2710G>T and p.Glu904Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357035(C;C) rs80357035(T;T)
Alt	rs80357035(C;C) rs80357035(T;T)
Reference	Rs80357035(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41244838C>A; NC_000017.10:g.41244838C>G
CLNSRC	ClinVar Ambry Genetics
CLNACC	RCV000031065.6, RCV000047940.2, RCV000130465.2, RCV000229677.1,