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rs397509007

From SNPedia

Merged intors80357540
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CT) 6 BRCA1 variant considered pathogenic for breast cancer
(CT;CT) 0 common in clinvar


Make rs397509007(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092786
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509007
dbSNP (classic)rs397509007
ClinGenrs397509007
ebirs397509007
HLIrs397509007
Exacrs397509007
Gnomadrs397509007
Varsomers397509007
LitVarrs397509007
Maprs397509007
PheGenIrs397509007
Biobankrs397509007
1000 genomesrs397509007
hgdprs397509007
ensemblrs397509007
geneviewrs397509007
scholarrs397509007
googlers397509007
pharmgkbrs397509007
gwascentralrs397509007
openSNPrs397509007
23andMers397509007
SNPshotrs397509007
SNPdbers397509007
MSV3drs397509007
GWAS Ctlgrs397509007
StatusMerged into rs80357540
Max Magnitude6

BRCA1, c.2744_2745delCT (p.Ser915Terfs)

ClinVar
Risk
Alt
Reference Rs397509007(CT;CT)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244803_41244804delAG
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000047955.2, RCV000132272.2, RCV000167766.4,