rs273898674

Orientation

minus

Stabilized

minus

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

Make rs273898674(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093472

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273898674
dbSNP (classic)	rs273898674
ClinGen	rs273898674
ebi	rs273898674
HLI	rs273898674
Exac	rs273898674
Gnomad	rs273898674
Varsome	rs273898674
LitVar	rs273898674
Map	rs273898674
PheGenI	rs273898674
Biobank	rs273898674
1000 genomes	rs273898674
hgdp	rs273898674
ensembl	rs273898674
geneview	rs273898674
scholar	rs273898674
google	rs273898674
pharmgkb	rs273898674
gwascentral	rs273898674
openSNP	rs273898674
23andMe	rs273898674
SNPshot	rs273898674
SNPdbe	rs273898674
MSV3d	rs273898674
GWAS Ctlg	rs273898674

Max Magnitude

6

rs273898674, also known as Q687X, c.2059C>T and p.Gln687Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273898674(T;T)
Alt	rs273898674(T;T)
Reference	Rs273898674(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41245489G>A
CLNSRC	ClinVar
CLNACC	RCV000047695.2, RCV000111755.3, RCV000216253.1, RCV000240699.1,