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rs80358658

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80358658(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338450
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358658
ebirs80358658
HLIrs80358658
Exacrs80358658
Varsomers80358658
Maprs80358658
PheGenIrs80358658
hapmaprs80358658
1000 genomesrs80358658
hgdprs80358658
ensemblrs80358658
gopubmedrs80358658
geneviewrs80358658
scholarrs80358658
googlers80358658
pharmgkbrs80358658
gwascentralrs80358658
openSNPrs80358658
23andMers80358658
23andMe allrs80358658
SNP Nexus

SNPshotrs80358658
SNPdbers80358658
MSV3drs80358658
GWAS Ctlgrs80358658
Max Magnitude6
rs80358658, also known as C1365X, c.4095T>A and p.Cys1365Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358658(A;A)
Alt rs80358658(A;A)
Reference rs80358658(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912587T>A
CLNSRC ClinVar
CLNACC RCV000044347.2, RCV000113273.1,