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rs80359347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359347(-;-)
Make rs80359347(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337141
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359347
ebirs80359347
HLIrs80359347
Exacrs80359347
Varsomers80359347
Maprs80359347
PheGenIrs80359347
hapmaprs80359347
1000 genomesrs80359347
hgdprs80359347
ensemblrs80359347
gopubmedrs80359347
geneviewrs80359347
scholarrs80359347
googlers80359347
pharmgkbrs80359347
gwascentralrs80359347
openSNPrs80359347
23andMers80359347
23andMe allrs80359347
SNP Nexus

SNPshotrs80359347
SNPdbers80359347
MSV3drs80359347
GWAS Ctlgrs80359347
Max Magnitude6
rs80359347, also known as 3014insT, c.2786_2787insT and p.Leu929?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359347(T;T)
Alt rs80359347(T;T)
Reference rs80359347(;)
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.32911278dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044057.2, RCV000077694.3,