rs80357432

Orientation

minus

Stabilized

minus

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

Make rs80357432(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43057069

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357432
dbSNP (classic)	rs80357432
ClinGen	rs80357432
ebi	rs80357432
HLI	rs80357432
Exac	rs80357432
Gnomad	rs80357432
Varsome	rs80357432
LitVar	rs80357432
Map	rs80357432
PheGenI	rs80357432
Biobank	rs80357432
1000 genomes	rs80357432
hgdp	rs80357432
ensembl	rs80357432
geneview	rs80357432
scholar	rs80357432
google	rs80357432
pharmgkb	rs80357432
gwascentral	rs80357432
openSNP	rs80357432
23andMe	rs80357432
SNPshot	rs80357432
SNPdbe	rs80357432
MSV3d	rs80357432
GWAS Ctlg	rs80357432

Max Magnitude

6

rs80357432, also known as E1754X, c.5260G>T and p.Glu1754Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357432(A;A) rs80357432(C;C) rs80357432(T;T)
Alt	rs80357432(A;A) rs80357432(C;C) rs80357432(T;T)
Reference	Rs80357432(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41209086C>A; NC_000017.10:g.41209086C>T
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000048891.3, RCV000112584.3, RCV000168521.2,