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rs397507602

From SNPedia

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


Make rs397507602(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333189
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507602
dbSNP (classic)rs397507602
ClinGenrs397507602
ebirs397507602
HLIrs397507602
Exacrs397507602
Gnomadrs397507602
Varsomers397507602
LitVarrs397507602
Maprs397507602
PheGenIrs397507602
Biobankrs397507602
1000 genomesrs397507602
hgdprs397507602
ensemblrs397507602
geneviewrs397507602
scholarrs397507602
googlers397507602
pharmgkbrs397507602
gwascentralrs397507602
openSNPrs397507602
23andMers397507602
SNPshotrs397507602
SNPdbers397507602
MSV3drs397507602
GWAS Ctlgrs397507602
Max Magnitude6

aka c.1711_1715delTCTGT (p.Val572fs)

ClinVar
Risk rs397507602(-;-)
Alt rs397507602(-;-)
Reference Rs397507602(TTCTG;TTCTG)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32907326_32907330delTCTGT
CLNSRC ClinVar
CLNACC RCV000043866.2,