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rs80359582

From SNPedia

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


Make rs80359582(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32316523
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359582
ebirs80359582
HLIrs80359582
Exacrs80359582
Varsomers80359582
Maprs80359582
PheGenIrs80359582
hapmaprs80359582
1000 genomesrs80359582
hgdprs80359582
ensemblrs80359582
gopubmedrs80359582
geneviewrs80359582
scholarrs80359582
googlers80359582
pharmgkbrs80359582
gwascentralrs80359582
openSNPrs80359582
23andMers80359582
23andMe allrs80359582
SNP Nexus

SNPshotrs80359582
SNPdbers80359582
MSV3drs80359582
GWAS Ctlgrs80359582
Max Magnitude6
rs80359582, also known as 291delA, c.63_63delA and p.Lys21=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359582(;)
Alt rs80359582(;)
Reference rs80359582(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.32890660delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044931.2, RCV000113077.1,