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rs80359728

From SNPedia

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


Make rs80359728(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379318
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359728
ebirs80359728
HLIrs80359728
Exacrs80359728
Varsomers80359728
Maprs80359728
PheGenIrs80359728
hapmaprs80359728
1000 genomesrs80359728
hgdprs80359728
ensemblrs80359728
gopubmedrs80359728
geneviewrs80359728
scholarrs80359728
googlers80359728
pharmgkbrs80359728
gwascentralrs80359728
openSNPrs80359728
23andMers80359728
23andMe allrs80359728
SNP Nexus

SNPshotrs80359728
SNPdbers80359728
MSV3drs80359728
GWAS Ctlgrs80359728
Max Magnitude6
rs80359728, also known as 8984delG, c.8756_8756delG and p.Gly2919Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359728(;)
Alt rs80359728(;)
Reference rs80359728(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.32953455delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045622.2, RCV000113997.1,