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rs80358913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358913(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32330925
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358913
ebirs80358913
HLIrs80358913
Exacrs80358913
Varsomers80358913
Maprs80358913
PheGenIrs80358913
hapmaprs80358913
1000 genomesrs80358913
hgdprs80358913
ensemblrs80358913
gopubmedrs80358913
geneviewrs80358913
scholarrs80358913
googlers80358913
pharmgkbrs80358913
gwascentralrs80358913
openSNPrs80358913
23andMers80358913
23andMe allrs80358913
SNP Nexus

SNPshotrs80358913
SNPdbers80358913
MSV3drs80358913
GWAS Ctlgrs80358913
Max Magnitude6
rs80358913, also known as K230X, c.688A>T and p.Lys230Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358913(T;T)
Alt rs80358913(T;T)
Reference rs80358913(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32905062A>T
CLNSRC ClinVar
CLNACC RCV000031654.4, RCV000045084.2, RCV000221860.1,