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rs80359424

From SNPedia

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


Make rs80359424(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338431
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359424
ebirs80359424
HLIrs80359424
Exacrs80359424
Varsomers80359424
Maprs80359424
PheGenIrs80359424
hapmaprs80359424
1000 genomesrs80359424
hgdprs80359424
ensemblrs80359424
gopubmedrs80359424
geneviewrs80359424
scholarrs80359424
googlers80359424
pharmgkbrs80359424
gwascentralrs80359424
openSNPrs80359424
23andMers80359424
23andMe allrs80359424
SNP Nexus

SNPshotrs80359424
SNPdbers80359424
MSV3drs80359424
GWAS Ctlgrs80359424
Max Magnitude6
rs80359424, also known as 4304delC, c.4076_4076delC and p.Thr1359Metfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359424(;)
Alt rs80359424(;)
Reference rs80359424(C;C)
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.32912568delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044341.2, RCV000113270.1,