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rs80359349

From SNPedia

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


Make rs80359349(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337153
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359349
ebirs80359349
HLIrs80359349
Exacrs80359349
Varsomers80359349
Maprs80359349
PheGenIrs80359349
hapmaprs80359349
1000 genomesrs80359349
hgdprs80359349
ensemblrs80359349
gopubmedrs80359349
geneviewrs80359349
scholarrs80359349
googlers80359349
pharmgkbrs80359349
gwascentralrs80359349
openSNPrs80359349
23andMers80359349
23andMe allrs80359349
SNP Nexus

SNPshotrs80359349
SNPdbers80359349
MSV3drs80359349
GWAS Ctlgrs80359349
Max Magnitude6
rs80359349, also known as 3026delC, c.2798_2798delC and p.Thr933Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359349(;)
Alt rs80359349(;)
Reference rs80359349(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.32911290delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044060.2, RCV000113093.1,