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rs80358670

From SNPedia

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


Make rs80358670(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338680
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358670
ebirs80358670
HLIrs80358670
Exacrs80358670
Varsomers80358670
Maprs80358670
PheGenIrs80358670
hapmaprs80358670
1000 genomesrs80358670
hgdprs80358670
ensemblrs80358670
gopubmedrs80358670
geneviewrs80358670
scholarrs80358670
googlers80358670
pharmgkbrs80358670
gwascentralrs80358670
openSNPrs80358670
23andMers80358670
23andMe allrs80358670
SNP Nexus

SNPshotrs80358670
SNPdbers80358670
MSV3drs80358670
GWAS Ctlgrs80358670
Max Magnitude6
rs80358670, also known as S1442X, c.4325C>A and p.Ser1442Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358670(A,G;A,G)
Alt rs80358670(A,G;A,G)
Reference rs80358670(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32912817C>A; NC_000013.10:g.32912817C>G
CLNSRC ClinVar
CLNACC RCV000044395.2, RCV000113295.1, RCV000077728.2, RCV000160186.1,