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rs80359298

From SNPedia

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


Make rs80359298(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32316477
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359298
ebirs80359298
HLIrs80359298
Exacrs80359298
Varsomers80359298
Maprs80359298
PheGenIrs80359298
hapmaprs80359298
1000 genomesrs80359298
hgdprs80359298
ensemblrs80359298
gopubmedrs80359298
geneviewrs80359298
scholarrs80359298
googlers80359298
pharmgkbrs80359298
gwascentralrs80359298
openSNPrs80359298
23andMers80359298
23andMe allrs80359298
SNP Nexus

SNPshotrs80359298
SNPdbers80359298
MSV3drs80359298
GWAS Ctlgrs80359298
Max Magnitude6
rs80359298, also known as 245delAA, c.17_18delAA and p.Lys6Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359298(;)
Alt rs80359298(;)
Reference rs80359298(AA;AA)
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.32890614_32890615delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043891.2, RCV000113025.2,