rs273899698

Orientation

minus

Stabilized

minus

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

Make rs273899698(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092434

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273899698
dbSNP (classic)	rs273899698
ClinGen	rs273899698
ebi	rs273899698
HLI	rs273899698
Exac	rs273899698
Gnomad	rs273899698
Varsome	rs273899698
LitVar	rs273899698
Map	rs273899698
PheGenI	rs273899698
Biobank	rs273899698
1000 genomes	rs273899698
hgdp	rs273899698
ensembl	rs273899698
geneview	rs273899698
scholar	rs273899698
google	rs273899698
pharmgkb	rs273899698
gwascentral	rs273899698
openSNP	rs273899698
23andMe	rs273899698
SNPshot	rs273899698
SNPdbe	rs273899698
MSV3d	rs273899698
GWAS Ctlg	rs273899698

Max Magnitude

6

rs273899698, also known as E1033X, c.3097G>T and p.Glu1033Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273899698(A;A) rs273899698(T;T)
Alt	rs273899698(A;A) rs273899698(T;T)
Reference	Rs273899698(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not specified
Reversed	1
HGVS	NC_000017.10:g.41244451C>A; NC_000017.10:g.41244451C>T
CLNSRC	ClinVar
CLNACC	RCV000048069.2, RCV000077538.5, RCV000216019.1, RCV000159975.1,