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rs80358719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358719(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339288
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358719
ebirs80358719
HLIrs80358719
Exacrs80358719
Varsomers80358719
Maprs80358719
PheGenIrs80358719
hapmaprs80358719
1000 genomesrs80358719
hgdprs80358719
ensemblrs80358719
gopubmedrs80358719
geneviewrs80358719
scholarrs80358719
googlers80358719
pharmgkbrs80358719
gwascentralrs80358719
openSNPrs80358719
23andMers80358719
23andMe allrs80358719
SNP Nexus

SNPshotrs80358719
SNPdbers80358719
MSV3drs80358719
GWAS Ctlgrs80358719
Max Magnitude6
rs80358719, also known as K1645X, c.4933A>T and p.Lys1645Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358719(T;T)
Alt rs80358719(T;T)
Reference rs80358719(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913425A>T
CLNSRC ClinVar
CLNACC RCV000044525.2, RCV000113359.1,