rs80357229

Orientation

minus

Stabilized

minus

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

Make rs80357229(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43074397

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357229
dbSNP (classic)	rs80357229
ClinGen	rs80357229
ebi	rs80357229
HLI	rs80357229
Exac	rs80357229
Gnomad	rs80357229
Varsome	rs80357229
LitVar	rs80357229
Map	rs80357229
PheGenI	rs80357229
Biobank	rs80357229
1000 genomes	rs80357229
hgdp	rs80357229
ensembl	rs80357229
geneview	rs80357229
scholar	rs80357229
google	rs80357229
pharmgkb	rs80357229
gwascentral	rs80357229
openSNP	rs80357229
23andMe	rs80357229
SNPshot	rs80357229
SNPdbe	rs80357229
MSV3d	rs80357229
GWAS Ctlg	rs80357229

Max Magnitude

6

rs80357229, also known as Q1537X, c.4609C>T and p.Gln1537Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357229(T;T)
Alt	rs80357229(T;T)
Reference	Rs80357229(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41226414G>A
CLNSRC	ClinVar
CLNACC	RCV000048604.2, RCV000112363.3, RCV000479214.1,