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

rs80358644

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358644(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338313
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358644
ebirs80358644
HLIrs80358644
Exacrs80358644
Varsomers80358644
Maprs80358644
PheGenIrs80358644
hapmaprs80358644
1000 genomesrs80358644
hgdprs80358644
ensemblrs80358644
gopubmedrs80358644
geneviewrs80358644
scholarrs80358644
googlers80358644
pharmgkbrs80358644
gwascentralrs80358644
openSNPrs80358644
23andMers80358644
23andMe allrs80358644
SNP Nexus

SNPshotrs80358644
SNPdbers80358644
MSV3drs80358644
GWAS Ctlgrs80358644
Max Magnitude6
rs80358644, also known as E1320X, c.3958G>T and p.Glu1320Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358644(A,T;A,T)
Alt rs80358644(A,T;A,T)
Reference rs80358644(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912450G>A; NC_000013.10:g.32912450G>T
CLNSRC ClinVar
CLNACC RCV000231743.1, RCV000044321.2, RCV000113251.1,