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rs398122651

From SNPedia

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


Make rs398122651(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106464
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122651
dbSNP (classic)rs398122651
ClinGenrs398122651
ebirs398122651
HLIrs398122651
Exacrs398122651
Gnomadrs398122651
Varsomers398122651
LitVarrs398122651
Maprs398122651
PheGenIrs398122651
Biobankrs398122651
1000 genomesrs398122651
hgdprs398122651
ensemblrs398122651
geneviewrs398122651
scholarrs398122651
googlers398122651
pharmgkbrs398122651
gwascentralrs398122651
openSNPrs398122651
23andMers398122651
SNPshotrs398122651
SNPdbers398122651
MSV3drs398122651
GWAS Ctlgrs398122651
Max Magnitude6

BRCA1, c.203_204delTA (p.Ile68Asnfs)

ClinVar
Risk rs398122651(-;-)
Alt rs398122651(-;-)
Reference Rs398122651(TA;TA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41258481_41258482delTA
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000077090.3, RCV000132360.2, RCV000159896.1,