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rs80358959

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358959(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32330970
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358959
ebirs80358959
HLIrs80358959
Exacrs80358959
Varsomers80358959
Maprs80358959
PheGenIrs80358959
hapmaprs80358959
1000 genomesrs80358959
hgdprs80358959
ensemblrs80358959
gopubmedrs80358959
geneviewrs80358959
scholarrs80358959
googlers80358959
pharmgkbrs80358959
gwascentralrs80358959
openSNPrs80358959
23andMers80358959
23andMe allrs80358959
SNP Nexus

SNPshotrs80358959
SNPdbers80358959
MSV3drs80358959
GWAS Ctlgrs80358959
Max Magnitude6
rs80358959, also known as R245X, c.733A>T and p.Arg245Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358959(T;T)
Alt rs80358959(T;T)
Reference rs80358959(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.32905107A>T
CLNSRC ClinVar
CLNACC RCV000045190.2, RCV000114103.1,