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rs80359331

From SNPedia

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


Make rs80359331(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336805
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359331
ebirs80359331
HLIrs80359331
Exacrs80359331
Varsomers80359331
Maprs80359331
PheGenIrs80359331
hapmaprs80359331
1000 genomesrs80359331
hgdprs80359331
ensemblrs80359331
gopubmedrs80359331
geneviewrs80359331
scholarrs80359331
googlers80359331
pharmgkbrs80359331
gwascentralrs80359331
openSNPrs80359331
23andMers80359331
23andMe allrs80359331
SNP Nexus

SNPshotrs80359331
SNPdbers80359331
MSV3drs80359331
GWAS Ctlgrs80359331
Max Magnitude6
rs80359331, also known as 2678delA, c.2450_2450delA and p.Lys817Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359331(;)
Alt rs80359331(;)
Reference rs80359331(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.32910942delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043998.2, RCV000113046.1,