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rs80359323

From SNPedia

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


Make rs80359323(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336449
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359323
ebirs80359323
HLIrs80359323
Exacrs80359323
Varsomers80359323
Maprs80359323
PheGenIrs80359323
hapmaprs80359323
1000 genomesrs80359323
hgdprs80359323
ensemblrs80359323
gopubmedrs80359323
geneviewrs80359323
scholarrs80359323
googlers80359323
pharmgkbrs80359323
gwascentralrs80359323
openSNPrs80359323
23andMers80359323
23andMe allrs80359323
SNP Nexus

SNPshotrs80359323
SNPdbers80359323
MSV3drs80359323
GWAS Ctlgrs80359323
Max Magnitude6
rs80359323, also known as 2322delA, c.2094_2094delA and p.Leu698=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359323(;)
Alt rs80359323(;)
Reference rs80359323(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.32910586delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043943.2, RCV000113012.1,