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rs397507675

From SNPedia

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


Make rs397507675(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337909
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507675
dbSNP (classic)rs397507675
ClinGenrs397507675
ebirs397507675
HLIrs397507675
Exacrs397507675
Gnomadrs397507675
Varsomers397507675
LitVarrs397507675
Maprs397507675
PheGenIrs397507675
Biobankrs397507675
1000 genomesrs397507675
hgdprs397507675
ensemblrs397507675
geneviewrs397507675
scholarrs397507675
googlers397507675
pharmgkbrs397507675
gwascentralrs397507675
openSNPrs397507675
23andMers397507675
SNPshotrs397507675
SNPdbers397507675
MSV3drs397507675
GWAS Ctlgrs397507675
Max Magnitude6

aka c.3554_3563delCAGTTGAAAT (p.Thr1185fs)

ClinVar
Risk rs397507675(-;-)
Alt rs397507675(-;-)
Reference Rs397507675(CAGTTGAAAT;CAGTTGAAAT)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome not specified
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome not specified
Reversed 0
HGVS NC_000013.10:g.32912046_32912055delCAGTTGAAAT
CLNSRC ClinVar
CLNACC RCV000044221.3, RCV000239304.1,