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rs80359643

From SNPedia

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


Make rs80359643(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355079
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359643
ebirs80359643
HLIrs80359643
Exacrs80359643
Varsomers80359643
Maprs80359643
PheGenIrs80359643
hapmaprs80359643
1000 genomesrs80359643
hgdprs80359643
ensemblrs80359643
gopubmedrs80359643
geneviewrs80359643
scholarrs80359643
googlers80359643
pharmgkbrs80359643
gwascentralrs80359643
openSNPrs80359643
23andMers80359643
23andMe allrs80359643
SNP Nexus

SNPshotrs80359643
SNPdbers80359643
MSV3drs80359643
GWAS Ctlgrs80359643
Max Magnitude6
rs80359643, also known as 7454delC, c.7226_7226delC and p.Pro2409Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359643(;)
Alt rs80359643(;)
Reference rs80359643(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.32929216delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045170.2, RCV000113733.1,