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rs80358533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358533(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337185
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358533
ebirs80358533
HLIrs80358533
Exacrs80358533
Varsomers80358533
Maprs80358533
PheGenIrs80358533
hapmaprs80358533
1000 genomesrs80358533
hgdprs80358533
ensemblrs80358533
gopubmedrs80358533
geneviewrs80358533
scholarrs80358533
googlers80358533
pharmgkbrs80358533
gwascentralrs80358533
openSNPrs80358533
23andMers80358533
23andMe allrs80358533
SNP Nexus

SNPshotrs80358533
SNPdbers80358533
MSV3drs80358533
GWAS Ctlgrs80358533
Max Magnitude6
rs80358533, also known as K944X, c.2830A>T and p.Lys944Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358533(T;T)
Alt rs80358533(T;T)
Reference rs80358533(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.32911322A>T
CLNSRC Inc.
CLNACC RCV000044070.4, RCV000077287.3, RCV000131101.3, RCV000212222.1,