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rs80359381

From SNPedia

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


Make rs80359381(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337624
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359381
ebirs80359381
HLIrs80359381
Exacrs80359381
Varsomers80359381
Maprs80359381
PheGenIrs80359381
hapmaprs80359381
1000 genomesrs80359381
hgdprs80359381
ensemblrs80359381
gopubmedrs80359381
geneviewrs80359381
scholarrs80359381
googlers80359381
pharmgkbrs80359381
gwascentralrs80359381
openSNPrs80359381
23andMers80359381
23andMe allrs80359381
SNP Nexus

SNPshotrs80359381
SNPdbers80359381
MSV3drs80359381
GWAS Ctlgrs80359381
Max Magnitude6
rs80359381, also known as 3497delT, c.3269_3269delT and p.Met1090Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359381(;)
Alt rs80359381(;)
Reference rs80359381(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.32911761delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044166.2, RCV000113154.1,