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rs80359292

From SNPedia

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


Make rs80359292(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333075
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359292
ebirs80359292
HLIrs80359292
Exacrs80359292
Varsomers80359292
Maprs80359292
PheGenIrs80359292
hapmaprs80359292
1000 genomesrs80359292
hgdprs80359292
ensemblrs80359292
gopubmedrs80359292
geneviewrs80359292
scholarrs80359292
googlers80359292
pharmgkbrs80359292
gwascentralrs80359292
openSNPrs80359292
23andMers80359292
23andMe allrs80359292
SNP Nexus

SNPshotrs80359292
SNPdbers80359292
MSV3drs80359292
GWAS Ctlgrs80359292
Max Magnitude6
rs80359292, also known as 1825delA, c.1597_1597delA and p.Thr533Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359292(;)
Alt rs80359292(;)
Reference rs80359292(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.32907212delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043838.2, RCV000112939.1,