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rs80359739

From SNPedia

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


Make rs80359739(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32379811
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359739
ebirs80359739
HLIrs80359739
Exacrs80359739
Varsomers80359739
Maprs80359739
PheGenIrs80359739
hapmaprs80359739
1000 genomesrs80359739
hgdprs80359739
ensemblrs80359739
gopubmedrs80359739
geneviewrs80359739
scholarrs80359739
googlers80359739
pharmgkbrs80359739
gwascentralrs80359739
openSNPrs80359739
23andMers80359739
23andMe allrs80359739
SNP Nexus

SNPshotrs80359739
SNPdbers80359739
MSV3drs80359739
GWAS Ctlgrs80359739
Max Magnitude6
rs80359739, also known as 9243delAT, c.9015_9016delAT and p.Arg3005_Tyr3006ArgGlnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359739(;)
Alt rs80359739(;)
Reference rs80359739(AT;AT)
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.32953949_32953950delTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045688.2, RCV000083152.4,