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rs80358638

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358638(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338277
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358638
ebirs80358638
HLIrs80358638
Exacrs80358638
Varsomers80358638
Maprs80358638
PheGenIrs80358638
hapmaprs80358638
1000 genomesrs80358638
hgdprs80358638
ensemblrs80358638
gopubmedrs80358638
geneviewrs80358638
scholarrs80358638
googlers80358638
pharmgkbrs80358638
gwascentralrs80358638
openSNPrs80358638
23andMers80358638
23andMe allrs80358638
SNP Nexus

SNPshotrs80358638
SNPdbers80358638
MSV3drs80358638
GWAS Ctlgrs80358638
Max Magnitude6
rs80358638, also known as E1308X, c.3922G>T and p.Glu1308Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358638(T;T)
Alt rs80358638(T;T)
Reference rs80358638(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32912414G>T
CLNSRC Inc.
CLNACC RCV000031448.7, RCV000044312.5, RCV000128952.3, RCV000167856.4,