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rs80358552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358552(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337431
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358552
ebirs80358552
HLIrs80358552
Exacrs80358552
Varsomers80358552
Maprs80358552
PheGenIrs80358552
hapmaprs80358552
1000 genomesrs80358552
hgdprs80358552
ensemblrs80358552
gopubmedrs80358552
geneviewrs80358552
scholarrs80358552
googlers80358552
pharmgkbrs80358552
gwascentralrs80358552
openSNPrs80358552
23andMers80358552
23andMe allrs80358552
SNP Nexus

SNPshotrs80358552
SNPdbers80358552
MSV3drs80358552
GWAS Ctlgrs80358552
Max Magnitude6
rs80358552, also known as K1026X, c.3076A>T and p.Lys1026Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358552(T;T)
Alt rs80358552(T;T)
Reference rs80358552(A;A)
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.32911568A>T
CLNSRC ClinVar
CLNACC RCV000044114.2, RCV000113132.1,