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rs80359559

From SNPedia

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


Make rs80359559(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340458
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359559
ebirs80359559
HLIrs80359559
Exacrs80359559
Varsomers80359559
Maprs80359559
PheGenIrs80359559
hapmaprs80359559
1000 genomesrs80359559
hgdprs80359559
ensemblrs80359559
gopubmedrs80359559
geneviewrs80359559
scholarrs80359559
googlers80359559
pharmgkbrs80359559
gwascentralrs80359559
openSNPrs80359559
23andMers80359559
23andMe allrs80359559
SNP Nexus

SNPshotrs80359559
SNPdbers80359559
MSV3drs80359559
GWAS Ctlgrs80359559
Max Magnitude6
rs80359559, also known as 6331delA, c.6103_6103delA and p.Thr2035Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359559(;)
Alt rs80359559(;)
Reference rs80359559(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.32914595delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044846.2, RCV000113533.1,