rs41286296

minus

Geno	Mag	Summary
(C;C)	0
(G;G)	0	common in clinvar
(G;T)	7	BRCA1 pathogenic mutation associated with breast cancer

Make rs41286296(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093268

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs41286296
dbSNP (classic)	rs41286296
ClinGen	rs41286296
ebi	rs41286296
HLI	rs41286296
Exac	rs41286296
Gnomad	rs41286296
Varsome	rs41286296
LitVar	rs41286296
Map	rs41286296
PheGenI	rs41286296
Biobank	rs41286296
1000 genomes	rs41286296
hgdp	rs41286296
ensembl	rs41286296
geneview	rs41286296
scholar	rs41286296
google	rs41286296
pharmgkb	rs41286296
gwascentral	rs41286296
openSNP	rs41286296
23andMe	rs41286296
SNPshot	rs41286296
SNPdbe	rs41286296
MSV3d	rs41286296
GWAS Ctlg	rs41286296

Max Magnitude

7

rs41286296, also known as E755X, c.2263G>T, and p.Glu755Ter, is a variant in the BRCA1 gene. The rare variant allele has been reported in ClinVar as pathogenic for breast cancer by at least three sources.

ClinVar
Risk	rs41286296(A;A) rs41286296(T;T)
Alt	rs41286296(A;A) rs41286296(T;T)
Reference	Rs41286296(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.41245285C>A; NC_000017.10:g.41245285C>T
CLNSRC	ClinVar
CLNACC	RCV000047776.2, RCV000111810.3, RCV000216413.1, RCV000483305.1,