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rs397507286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507286(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336835
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507286
dbSNP (classic)rs397507286
ClinGenrs397507286
ebirs397507286
HLIrs397507286
Exacrs397507286
Gnomadrs397507286
Varsomers397507286
LitVarrs397507286
Maprs397507286
PheGenIrs397507286
Biobankrs397507286
1000 genomesrs397507286
hgdprs397507286
ensemblrs397507286
geneviewrs397507286
scholarrs397507286
googlers397507286
pharmgkbrs397507286
gwascentralrs397507286
openSNPrs397507286
23andMers397507286
SNPshotrs397507286
SNPdbers397507286
MSV3drs397507286
GWAS Ctlgrs397507286
Max Magnitude6

aka c.2480dupA (p.Asn827Lysfs)

ClinVar
Risk rs397507286(A;A)
Alt rs397507286(A;A)
Reference Rs397507286(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32910972dupA
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031368.4, RCV000130443.2, RCV000381040.1,