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rs80359745

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;AA) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359745(-;-)
Make rs80359745(AA;AA)
ReferenceGRCh38 38.1/142
Chromosome13
Position32379862
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359745
ebirs80359745
HLIrs80359745
Exacrs80359745
Varsomers80359745
Maprs80359745
PheGenIrs80359745
hapmaprs80359745
1000 genomesrs80359745
hgdprs80359745
ensemblrs80359745
gopubmedrs80359745
geneviewrs80359745
scholarrs80359745
googlers80359745
pharmgkbrs80359745
gwascentralrs80359745
openSNPrs80359745
23andMers80359745
23andMe allrs80359745
SNP Nexus

SNPshotrs80359745
SNPdbers80359745
MSV3drs80359745
GWAS Ctlgrs80359745
Max Magnitude6
rs80359745, also known as 9294insAA, c.9066_9067insAA and p.Arg3022_Ala3023?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359745(AA;AA)
Alt rs80359745(AA;AA)
Reference rs80359745(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32953999_32954000insAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000114039.1,