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rs80358993

From SNPedia

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


Make rs80358993(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32357771
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358993
ebirs80358993
HLIrs80358993
Exacrs80358993
Varsomers80358993
Maprs80358993
PheGenIrs80358993
hapmaprs80358993
1000 genomesrs80358993
hgdprs80358993
ensemblrs80358993
gopubmedrs80358993
geneviewrs80358993
scholarrs80358993
googlers80358993
pharmgkbrs80358993
gwascentralrs80358993
openSNPrs80358993
23andMers80358993
23andMe allrs80358993
SNP Nexus

SNPshotrs80358993
SNPdbers80358993
MSV3drs80358993
GWAS Ctlgrs80358993
Max Magnitude6
rs80358993, also known as C2549X, c.7647C>A and p.Cys2549Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358993(A;A)
Alt rs80358993(A;A)
Reference rs80358993(C;C)
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.32931908C>A
CLNSRC ClinVar
CLNACC RCV000045276.2, RCV000113801.1,