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rs397509086

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CTCAGGG) 6 BRCA1 variant considered pathogenic for breast cancer
(CTCAGGG;CTCAGGG) 0 common in clinvar


Make rs397509086(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091929
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509086
dbSNP (classic)rs397509086
ClinGenrs397509086
ebirs397509086
HLIrs397509086
Exacrs397509086
Gnomadrs397509086
Varsomers397509086
LitVarrs397509086
Maprs397509086
PheGenIrs397509086
Biobankrs397509086
1000 genomesrs397509086
hgdprs397509086
ensemblrs397509086
geneviewrs397509086
scholarrs397509086
googlers397509086
pharmgkbrs397509086
gwascentralrs397509086
openSNPrs397509086
23andMers397509086
SNPshotrs397509086
SNPdbers397509086
MSV3drs397509086
GWAS Ctlgrs397509086
Max Magnitude6

aka c.3596_3602delCTCAGGG (p.Ala1199Valfs)

ClinVar
Risk rs397509086(-;-)
Alt rs397509086(-;-)
Reference Rs397509086(CTCAGGG;CTCAGGG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243946_41243952delCCCTGAG
CLNSRC ClinVar
CLNACC RCV000048244.2, RCV000241176.2,