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rs80358427

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358427(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332877
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358427
ebirs80358427
HLIrs80358427
Exacrs80358427
Varsomers80358427
Maprs80358427
PheGenIrs80358427
hapmaprs80358427
1000 genomesrs80358427
hgdprs80358427
ensemblrs80358427
gopubmedrs80358427
geneviewrs80358427
scholarrs80358427
googlers80358427
pharmgkbrs80358427
gwascentralrs80358427
openSNPrs80358427
23andMers80358427
23andMe allrs80358427
SNP Nexus

SNPshotrs80358427
SNPdbers80358427
MSV3drs80358427
GWAS Ctlgrs80358427
Max Magnitude6
rs80358427, also known as K467X, c.1399A>T and p.Lys467Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358427(T;T)
Alt rs80358427(T;T)
Reference rs80358427(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.32907014A>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000043799.2, RCV000077256.3, RCV000131059.2, RCV000221316.1,