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rs80359528

From SNPedia

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


Make rs80359528(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340057
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359528
ebirs80359528
HLIrs80359528
Exacrs80359528
Varsomers80359528
Maprs80359528
PheGenIrs80359528
hapmaprs80359528
1000 genomesrs80359528
hgdprs80359528
ensemblrs80359528
gopubmedrs80359528
geneviewrs80359528
scholarrs80359528
googlers80359528
pharmgkbrs80359528
gwascentralrs80359528
openSNPrs80359528
23andMers80359528
23andMe allrs80359528
SNP Nexus

SNPshotrs80359528
SNPdbers80359528
MSV3drs80359528
GWAS Ctlgrs80359528
Max Magnitude6
rs80359528, also known as 5930delAG, c.5702_5703delAG and p.Glu1901Glyfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359528(;)
Alt rs80359528(;)
Reference rs80359528(AG;AG)
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.32914194_32914195delAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044722.2, RCV000113463.1,