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rs397515636

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;TGCT) 6 BRCA2 variant considered pathogenic for breast cancer
(-;TTGC) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397515636(TGCT;TGCT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position32338333
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397515636
dbSNP (classic)rs397515636
ClinGenrs397515636
ebirs397515636
HLIrs397515636
Exacrs397515636
Gnomadrs397515636
Varsomers397515636
LitVarrs397515636
Maprs397515636
PheGenIrs397515636
Biobankrs397515636
1000 genomesrs397515636
hgdprs397515636
ensemblrs397515636
geneviewrs397515636
scholarrs397515636
googlers397515636
pharmgkbrs397515636
gwascentralrs397515636
openSNPrs397515636
23andMers397515636
SNPshotrs397515636
SNPdbers397515636
MSV3drs397515636
GWAS Ctlgrs397515636
Max Magnitude6

Two HGVS names correspond to this single variant: c.3975_3978dupTGCT (p.Ala1327Cysfs), and, c.3978_3979insTTGC (p.Ala1327Leufs)