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rs397507704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;CATC) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507704(CATC;CATC)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338452
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507704
dbSNP (classic)rs397507704
ClinGenrs397507704
ebirs397507704
HLIrs397507704
Exacrs397507704
Gnomadrs397507704
Varsomers397507704
LitVarrs397507704
Maprs397507704
PheGenIrs397507704
Biobankrs397507704
1000 genomesrs397507704
hgdprs397507704
ensemblrs397507704
geneviewrs397507704
scholarrs397507704
googlers397507704
pharmgkbrs397507704
gwascentralrs397507704
openSNPrs397507704
23andMers397507704
SNPshotrs397507704
SNPdbers397507704
MSV3drs397507704
GWAS Ctlgrs397507704
Max Magnitude6

aka c.4097_4098insCATC (p.Lys1367fs)

ClinVar
Risk rs397507704(CATC;CATC)
Alt rs397507704(CATC;CATC)
Reference Rs397507704(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32912589_32912590insCATC
CLNSRC ClinVar
CLNACC RCV000044349.2,