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rs80358864

From SNPedia

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


Make rs80358864(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340594
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358864
ebirs80358864
HLIrs80358864
Exacrs80358864
Varsomers80358864
Maprs80358864
PheGenIrs80358864
hapmaprs80358864
1000 genomesrs80358864
hgdprs80358864
ensemblrs80358864
gopubmedrs80358864
geneviewrs80358864
scholarrs80358864
googlers80358864
pharmgkbrs80358864
gwascentralrs80358864
openSNPrs80358864
23andMers80358864
23andMe allrs80358864
SNP Nexus

SNPshotrs80358864
SNPdbers80358864
MSV3drs80358864
GWAS Ctlgrs80358864
Max Magnitude6
rs80358864, also known as L2080X, c.6239T>G and p.Leu2080Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358864(G;G)
Alt rs80358864(G;G)
Reference rs80358864(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.32914731T>G
CLNSRC ClinVar
CLNACC RCV000044878.2, RCV000113554.1,