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rs397507606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AA) 6 BRCA2 variant considered pathogenic for breast cancer
(AA;AA) 0 common in clinvar


Make rs397507606(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333243
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507606
dbSNP (classic)rs397507606
ClinGenrs397507606
ebirs397507606
HLIrs397507606
Exacrs397507606
Gnomadrs397507606
Varsomers397507606
LitVarrs397507606
Maprs397507606
PheGenIrs397507606
Biobankrs397507606
1000 genomesrs397507606
hgdprs397507606
ensemblrs397507606
geneviewrs397507606
scholarrs397507606
googlers397507606
pharmgkbrs397507606
gwascentralrs397507606
openSNPrs397507606
23andMers397507606
SNPshotrs397507606
SNPdbers397507606
MSV3drs397507606
GWAS Ctlgrs397507606
Max Magnitude6

aka c.1765_1766delAA (p.Lys589fs)

ClinVar
Risk rs397507606(-;-)
Alt rs397507606(-;-)
Reference Rs397507606(AA;AA)
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.32907380_32907381delAA
CLNSRC ClinVar
CLNACC RCV000043878.2, RCV000257130.2,