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rs80359471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359471(-;-)
Make rs80359471(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339259
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359471
ebirs80359471
HLIrs80359471
Exacrs80359471
Varsomers80359471
Maprs80359471
PheGenIrs80359471
hapmaprs80359471
1000 genomesrs80359471
hgdprs80359471
ensemblrs80359471
gopubmedrs80359471
geneviewrs80359471
scholarrs80359471
googlers80359471
pharmgkbrs80359471
gwascentralrs80359471
openSNPrs80359471
23andMers80359471
23andMe allrs80359471
SNP Nexus

SNPshotrs80359471
SNPdbers80359471
MSV3drs80359471
GWAS Ctlgrs80359471
Max Magnitude6
rs80359471, also known as 5132insT, c.4904_4905insT and p.Leu1635?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359471(T;T)
Alt rs80359471(T;T)
Reference rs80359471(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913396dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113358.1,