Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358825

From SNPedia

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


Make rs80358825(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340280
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358825
ebirs80358825
HLIrs80358825
Exacrs80358825
Varsomers80358825
Maprs80358825
PheGenIrs80358825
hapmaprs80358825
1000 genomesrs80358825
hgdprs80358825
ensemblrs80358825
gopubmedrs80358825
geneviewrs80358825
scholarrs80358825
googlers80358825
pharmgkbrs80358825
gwascentralrs80358825
openSNPrs80358825
23andMers80358825
23andMe allrs80358825
SNP Nexus

SNPshotrs80358825
SNPdbers80358825
MSV3drs80358825
GWAS Ctlgrs80358825
Max Magnitude6
rs80358825, also known as C1975X, c.5925T>A and p.Cys1975Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358825(A,C,G;A,C,G)
Alt rs80358825(A,C,G;A,C,G)
Reference rs80358825(T;T)
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.32914417T>A; NC_000013.10:g.32914417T>G
CLNSRC ClinVar
CLNACC RCV000044792.3, RCV000113503.1, RCV000044793.2, RCV000113504.1,