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rs41286296

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093268
GeneBRCA1
is asnp
is mentioned by
dbSNPrs41286296
ebirs41286296
HLIrs41286296
Exacrs41286296
Varsomers41286296
Maprs41286296
PheGenIrs41286296
hapmaprs41286296
1000 genomesrs41286296
hgdprs41286296
ensemblrs41286296
gopubmedrs41286296
geneviewrs41286296
scholarrs41286296
googlers41286296
pharmgkbrs41286296
gwascentralrs41286296
openSNPrs41286296
23andMers41286296
23andMe allrs41286296
SNP Nexus

SNPshotrs41286296
SNPdbers41286296
MSV3drs41286296
GWAS Ctlgrs41286296
Max Magnitude7

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,T;A,T)
Alt rs41286296(A,T;A,T)
Reference rs41286296(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41245285C>A; NC_000017.10:g.41245285C>T
CLNSRC ClinVar
CLNACC RCV000047776.2, RCV000111810.1, RCV000216413.1,