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rs80359545

From SNPedia

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


Make rs80359545(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340212
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359545
ebirs80359545
HLIrs80359545
Exacrs80359545
Varsomers80359545
Maprs80359545
PheGenIrs80359545
hapmaprs80359545
1000 genomesrs80359545
hgdprs80359545
ensemblrs80359545
gopubmedrs80359545
geneviewrs80359545
scholarrs80359545
googlers80359545
pharmgkbrs80359545
gwascentralrs80359545
openSNPrs80359545
23andMers80359545
23andMe allrs80359545
SNP Nexus

SNPshotrs80359545
SNPdbers80359545
MSV3drs80359545
GWAS Ctlgrs80359545
Max Magnitude6
rs80359545, also known as 6085delG, c.5857_5857delG and p.Glu1953Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359545(;)
Alt rs80359545(;)
Reference rs80359545(G;G)
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.32914349delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044776.2, RCV000113495.1,