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rs397509201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TATAATGCAATGG) 6 Likely miscall in Ancestry data; otherwise, BRCA1 variant considered pathogenic for breast cancer
(TATAATGCAATGG;TATAATGCAATGG) 0 common in clinvar


Make rs397509201(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071029
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509201
dbSNP (classic)rs397509201
ClinGenrs397509201
ebirs397509201
HLIrs397509201
Exacrs397509201
Gnomadrs397509201
Varsomers397509201
LitVarrs397509201
Maprs397509201
PheGenIrs397509201
Biobankrs397509201
1000 genomesrs397509201
hgdprs397509201
ensemblrs397509201
geneviewrs397509201
scholarrs397509201
googlers397509201
pharmgkbrs397509201
gwascentralrs397509201
openSNPrs397509201
23andMers397509201
SNPshotrs397509201
SNPdbers397509201
MSV3drs397509201
GWAS Ctlgrs397509201
Max Magnitude6

aka 4992del13, c.4873_4885delTATAATGCAATGG, and p.Tyr1625Lysfs

ClinVar
Risk rs397509201(-;-)
Alt rs397509201(-;-)
Reference Rs397509201(TATAATGCAATGG;TATAATGCAATGG)
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.41223046_41223058delCCATTGCATTATA
CLNSRC ClinVar
CLNACC RCV000048681.2, RCV000257711.2,