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rs397507871

From SNPedia

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


Make rs397507871(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340989
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507871
dbSNP (classic)rs397507871
ClinGenrs397507871
ebirs397507871
HLIrs397507871
Exacrs397507871
Gnomadrs397507871
Varsomers397507871
LitVarrs397507871
Maprs397507871
PheGenIrs397507871
Biobankrs397507871
1000 genomesrs397507871
hgdprs397507871
ensemblrs397507871
geneviewrs397507871
scholarrs397507871
googlers397507871
pharmgkbrs397507871
gwascentralrs397507871
openSNPrs397507871
23andMers397507871
SNPshotrs397507871
SNPdbers397507871
MSV3drs397507871
GWAS Ctlgrs397507871
Max Magnitude6

aka c.6634_6637delTGTT (p.Cys2212Leufs)

ClinVar
Risk rs397507871(-;-)
Alt rs397507871(-;-)
Reference Rs397507871(GTTT;GTTT)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32915126_32915129delTGTT
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044999.2, RCV000132328.3, RCV000241285.2,