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rs80359678

From SNPedia

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


Make rs80359678(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32357885
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359678
ebirs80359678
HLIrs80359678
Exacrs80359678
Varsomers80359678
Maprs80359678
PheGenIrs80359678
hapmaprs80359678
1000 genomesrs80359678
hgdprs80359678
ensemblrs80359678
gopubmedrs80359678
geneviewrs80359678
scholarrs80359678
googlers80359678
pharmgkbrs80359678
gwascentralrs80359678
openSNPrs80359678
23andMers80359678
23andMe allrs80359678
SNP Nexus

SNPshotrs80359678
SNPdbers80359678
MSV3drs80359678
GWAS Ctlgrs80359678
Max Magnitude6
rs80359678, also known as 7989delC, c.7761_7761delC and p.Leu2587=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359678(;)
Alt rs80359678(;)
Reference rs80359678(C;C)
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.32932022delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045306.2, RCV000113813.1,