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rs397509307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397509307(-;C)
Make rs397509307(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094853
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509307
dbSNP (classic)rs397509307
ClinGenrs397509307
ebirs397509307
HLIrs397509307
Exacrs397509307
Gnomadrs397509307
Varsomers397509307
LitVarrs397509307
Maprs397509307
PheGenIrs397509307
Biobankrs397509307
1000 genomesrs397509307
hgdprs397509307
ensemblrs397509307
geneviewrs397509307
scholarrs397509307
googlers397509307
pharmgkbrs397509307
gwascentralrs397509307
openSNPrs397509307
23andMers397509307
SNPshotrs397509307
SNPdbers397509307
MSV3drs397509307
GWAS Ctlgrs397509307
Max Magnitude0

aka c.677_678insC; pathogenicity of this BRCA1 gene mutation is not annotated in ClinVar

ClinVar
Risk rs397509307(C;C)
Alt rs397509307(C;C)
Reference Rs397509307(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41246870_41246871insG
CLNSRC ClinVar
CLNACC RCV000049092.2,