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rs80358344

From SNPedia

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


Make rs80358344(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067618
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358344
dbSNP (classic)rs80358344
ClinGenrs80358344
ebirs80358344
HLIrs80358344
Exacrs80358344
Gnomadrs80358344
Varsomers80358344
LitVarrs80358344
Maprs80358344
PheGenIrs80358344
Biobankrs80358344
1000 genomesrs80358344
hgdprs80358344
ensemblrs80358344
geneviewrs80358344
scholarrs80358344
googlers80358344
pharmgkbrs80358344
gwascentralrs80358344
openSNPrs80358344
23andMers80358344
SNPshotrs80358344
SNPdbers80358344
MSV3drs80358344
GWAS Ctlgrs80358344
Max Magnitude6

aka c.5059_5061delGTT

ClinVar
Risk rs80358344(-;-)
Alt rs80358344(-;-)
Reference Rs80358344(GTT;GTT)
Significance Other
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41219635_41219637delAAC
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048753.3, RCV000112479.1, RCV000130452.3, RCV000235533.1,