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rs80359532

From SNPedia

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


Make rs80359532(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340079
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359532
ebirs80359532
HLIrs80359532
Exacrs80359532
Varsomers80359532
Maprs80359532
PheGenIrs80359532
hapmaprs80359532
1000 genomesrs80359532
hgdprs80359532
ensemblrs80359532
gopubmedrs80359532
geneviewrs80359532
scholarrs80359532
googlers80359532
pharmgkbrs80359532
gwascentralrs80359532
openSNPrs80359532
23andMers80359532
23andMe allrs80359532
SNP Nexus

SNPshotrs80359532
SNPdbers80359532
MSV3drs80359532
GWAS Ctlgrs80359532
Max Magnitude6
rs80359532, also known as 5952delA, c.5724_5724delA and p.Leu1908=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359532(;)
Alt rs80359532(;)
Reference rs80359532(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.32914216delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044730.2, RCV000113470.1,