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rs397507574

From SNPedia

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


Make rs397507574(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332654
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507574
dbSNP (classic)rs397507574
ClinGenrs397507574
ebirs397507574
HLIrs397507574
Exacrs397507574
Gnomadrs397507574
Varsomers397507574
LitVarrs397507574
Maprs397507574
PheGenIrs397507574
Biobankrs397507574
1000 genomesrs397507574
hgdprs397507574
ensemblrs397507574
geneviewrs397507574
scholarrs397507574
googlers397507574
pharmgkbrs397507574
gwascentralrs397507574
openSNPrs397507574
23andMers397507574
SNPshotrs397507574
SNPdbers397507574
MSV3drs397507574
GWAS Ctlgrs397507574
Max Magnitude6

aka c.1176_1180delCTGTG (p.Cys393fs)

ClinVar
Risk rs397507574(-;-)
Alt rs397507574(-;-)
Reference Rs397507574(CTGTG;CTGTG)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32906791_32906795delCTGTG
CLNSRC ClinVar
CLNACC RCV000043750.2,