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rs80358692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358692(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338943
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358692
ebirs80358692
HLIrs80358692
Exacrs80358692
Varsomers80358692
Maprs80358692
PheGenIrs80358692
hapmaprs80358692
1000 genomesrs80358692
hgdprs80358692
ensemblrs80358692
gopubmedrs80358692
geneviewrs80358692
scholarrs80358692
googlers80358692
pharmgkbrs80358692
gwascentralrs80358692
openSNPrs80358692
23andMers80358692
23andMe allrs80358692
SNP Nexus

SNPshotrs80358692
SNPdbers80358692
MSV3drs80358692
GWAS Ctlgrs80358692
Max Magnitude6
rs80358692, also known as K1530X, c.4588A>T and p.Lys1530Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358692(T;T)
Alt rs80358692(T;T)
Reference rs80358692(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32913080A>T
CLNSRC ClinVar
CLNACC RCV000044447.4, RCV000077329.4, RCV000162921.1, RCV000212238.2,