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rs80359534

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359534(-;-)
Make rs80359534(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340118
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359534
ebirs80359534
HLIrs80359534
Exacrs80359534
Varsomers80359534
Maprs80359534
PheGenIrs80359534
hapmaprs80359534
1000 genomesrs80359534
hgdprs80359534
ensemblrs80359534
gopubmedrs80359534
geneviewrs80359534
scholarrs80359534
googlers80359534
pharmgkbrs80359534
gwascentralrs80359534
openSNPrs80359534
23andMers80359534
23andMe allrs80359534
SNP Nexus

SNPshotrs80359534
SNPdbers80359534
MSV3drs80359534
GWAS Ctlgrs80359534
Max Magnitude6
rs80359534, also known as 5991insT, c.5763_5764insT and p.Phe1921_Ala1922?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359534(T;T)
Alt rs80359534(T;T)
Reference rs80359534(;)
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.32914255dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044747.2, RCV000113479.1,