rs80357456

Orientation

minus

Stabilized

minus

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

Make rs80357456(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091456

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357456
dbSNP (classic)	rs80357456
ClinGen	rs80357456
ebi	rs80357456
HLI	rs80357456
Exac	rs80357456
Gnomad	rs80357456
Varsome	rs80357456
LitVar	rs80357456
Map	rs80357456
PheGenI	rs80357456
Biobank	rs80357456
1000 genomes	rs80357456
hgdp	rs80357456
ensembl	rs80357456
geneview	rs80357456
scholar	rs80357456
google	rs80357456
pharmgkb	rs80357456
gwascentral	rs80357456
openSNP	rs80357456
23andMe	rs80357456
SNPshot	rs80357456
SNPdbe	rs80357456
MSV3d	rs80357456
GWAS Ctlg	rs80357456

Max Magnitude

6

rs80357456, also known as Q1359X, c.4075C>T and p.Gln1359Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357456(G;G) rs80357456(T;T)
Alt	rs80357456(G;G) rs80357456(T;T)
Reference	Rs80357456(C;C)
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.41243473G>A; NC_000017.10:g.41243473G>C
CLNSRC	ClinVar
CLNACC	RCV000048436.2, RCV000112239.3, RCV000031144.3,