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rs80359333

From SNPedia

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


Make rs80359333(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336900
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359333
ebirs80359333
HLIrs80359333
Exacrs80359333
Varsomers80359333
Maprs80359333
PheGenIrs80359333
hapmaprs80359333
1000 genomesrs80359333
hgdprs80359333
ensemblrs80359333
gopubmedrs80359333
geneviewrs80359333
scholarrs80359333
googlers80359333
pharmgkbrs80359333
gwascentralrs80359333
openSNPrs80359333
23andMers80359333
23andMe allrs80359333
SNP Nexus

SNPshotrs80359333
SNPdbers80359333
MSV3drs80359333
GWAS Ctlgrs80359333
Max Magnitude6
rs80359333, also known as 2773delG, c.2545_2545delG and p.Val849Tyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359333(;)
Alt rs80359333(;)
Reference rs80359333(G;G)
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.32911037delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044013.2, RCV000113059.1,