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rs80359320

From SNPedia

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


Make rs80359320(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319213
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359320
ebirs80359320
HLIrs80359320
Exacrs80359320
Varsomers80359320
Maprs80359320
PheGenIrs80359320
hapmaprs80359320
1000 genomesrs80359320
hgdprs80359320
ensemblrs80359320
gopubmedrs80359320
geneviewrs80359320
scholarrs80359320
googlers80359320
pharmgkbrs80359320
gwascentralrs80359320
openSNPrs80359320
23andMers80359320
23andMe allrs80359320
SNP Nexus

SNPshotrs80359320
SNPdbers80359320
MSV3drs80359320
GWAS Ctlgrs80359320
Max Magnitude6
rs80359320, also known as 432delA, c.204_204delA and p.Lys68Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359320(;)
Alt rs80359320(;)
Reference rs80359320(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.32893350delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043939.2, RCV000113274.1,