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rs80359207

From SNPedia

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


Make rs80359207(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394788
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359207
ebirs80359207
HLIrs80359207
Exacrs80359207
Varsomers80359207
Maprs80359207
PheGenIrs80359207
hapmaprs80359207
1000 genomesrs80359207
hgdprs80359207
ensemblrs80359207
gopubmedrs80359207
geneviewrs80359207
scholarrs80359207
googlers80359207
pharmgkbrs80359207
gwascentralrs80359207
openSNPrs80359207
23andMers80359207
23andMe allrs80359207
SNP Nexus

SNPshotrs80359207
SNPdbers80359207
MSV3drs80359207
GWAS Ctlgrs80359207
Max Magnitude6
rs80359207, also known as L3119X, c.9356T>G and p.Leu3119Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359207(G;G)
Alt rs80359207(G;G)
Reference rs80359207(T;T)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32968925T>A; NC_000013.10:g.32968925T>G
CLNSRC ClinVar
CLNACC RCV000215065.1, RCV000045798.2, RCV000114094.1,