rs80357458

Orientation

minus

Stabilized

minus

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

Make rs80357458(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092699

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357458
dbSNP (classic)	rs80357458
ClinGen	rs80357458
ebi	rs80357458
HLI	rs80357458
Exac	rs80357458
Gnomad	rs80357458
Varsome	rs80357458
LitVar	rs80357458
Map	rs80357458
PheGenI	rs80357458
Biobank	rs80357458
1000 genomes	rs80357458
hgdp	rs80357458
ensembl	rs80357458
geneview	rs80357458
scholar	rs80357458
google	rs80357458
pharmgkb	rs80357458
gwascentral	rs80357458
openSNP	rs80357458
23andMe	rs80357458
SNPshot	rs80357458
SNPdbe	rs80357458
MSV3d	rs80357458
GWAS Ctlg	rs80357458

Max Magnitude

6

rs80357458, also known as C944X, c.2832T>A and p.Cys944Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357458(A;A)
Alt	rs80357458(A;A)
Reference	Rs80357458(T;T)
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.41244716A>T
CLNSRC	ClinVar
CLNACC	RCV000047982.2, RCV000111946.2,