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rs80358471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358471(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333297
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358471
ebirs80358471
HLIrs80358471
Exacrs80358471
Varsomers80358471
Maprs80358471
PheGenIrs80358471
hapmaprs80358471
1000 genomesrs80358471
hgdprs80358471
ensemblrs80358471
gopubmedrs80358471
geneviewrs80358471
scholarrs80358471
googlers80358471
pharmgkbrs80358471
gwascentralrs80358471
openSNPrs80358471
23andMers80358471
23andMe allrs80358471
SNP Nexus

SNPshotrs80358471
SNPdbers80358471
MSV3drs80358471
GWAS Ctlgrs80358471
Max Magnitude6
rs80358471, also known as K607X, c.1819A>T and p.Lys607Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358471(T;T)
Alt rs80358471(T;T)
Reference rs80358471(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32907434A>T
CLNSRC ClinVar
CLNACC RCV000077668.4,