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rs80358840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358840(A;G)
Make rs80358840(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340392
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358840
ebirs80358840
HLIrs80358840
Exacrs80358840
Varsomers80358840
Maprs80358840
PheGenIrs80358840
hapmaprs80358840
1000 genomesrs80358840
hgdprs80358840
ensemblrs80358840
gopubmedrs80358840
geneviewrs80358840
scholarrs80358840
googlers80358840
pharmgkbrs80358840
gwascentralrs80358840
openSNPrs80358840
23andMers80358840
23andMe allrs80358840
SNP Nexus

SNPshotrs80358840
SNPdbers80358840
MSV3drs80358840
GWAS Ctlgrs80358840
Max Magnitude6
rs80358840, also known as K2013X, c.6037A>T and p.Lys2013Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358840(G,T;G,T)
Alt rs80358840(G,T;G,T)
Reference rs80358840(A;A)
Significance Other
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914529A>G; NC_000013.10:g.32914529A>T
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000044826.3, RCV000083121.3, RCV000162633.1, RCV000031597.7, RCV000044827.3, RCV000131111.2, RCV000217667.1,