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rs398122679

From SNPedia

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


Make rs398122679(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091466
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122679
dbSNP (classic)rs398122679
ClinGenrs398122679
ebirs398122679
HLIrs398122679
Exacrs398122679
Gnomadrs398122679
Varsomers398122679
LitVarrs398122679
Maprs398122679
PheGenIrs398122679
Biobankrs398122679
1000 genomesrs398122679
hgdprs398122679
ensemblrs398122679
geneviewrs398122679
scholarrs398122679
googlers398122679
pharmgkbrs398122679
gwascentralrs398122679
openSNPrs398122679
23andMers398122679
SNPshotrs398122679
SNPdbers398122679
MSV3drs398122679
GWAS Ctlgrs398122679
Max Magnitude6

BRCA1, c.4062_4065delTAAT (p.Asn1355Lysfs)

ClinVar
Risk rs398122679(-;-)
Alt rs398122679(-;-)
Reference Rs398122679(TAAT;TAAT)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243483_41243486delATTA
CLNSRC ClinVar
CLNACC RCV000077138.3,