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rs387906563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AGCCATGTGG) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
Make rs387906563(-;-)
Make rs387906563(AGCCATGTGG;AGCCATGTGG)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094706
GeneBRCA1
is asnp
is mentioned by
dbSNPrs387906563
ebirs387906563
HLIrs387906563
Exacrs387906563
Varsomers387906563
Maprs387906563
PheGenIrs387906563
hapmaprs387906563
1000 genomesrs387906563
hgdprs387906563
ensemblrs387906563
gopubmedrs387906563
geneviewrs387906563
scholarrs387906563
googlers387906563
pharmgkbrs387906563
gwascentralrs387906563
openSNPrs387906563
23andMers387906563
23andMe allrs387906563
SNP Nexus

SNPshotrs387906563
SNPdbers387906563
MSV3drs387906563
GWAS Ctlgrs387906563
Max Magnitude6
rs387906563, also known as 943ins10, c.824_825insAGCCATGTGG and p.Thr276Alafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs387906563(GAGCCATGTGGC,AGCCATGTGGC;GAGCCATGTGGC,AGCCATGTGGC)
Alt rs387906563(GAGCCATGTGGC,AGCCATGTGGC;GAGCCATGTGGC,AGCCATGTGGC)
Reference rs387906563(C;C)
Significance Pathogenic
Disease Familial cancer of breast
Variation info
Gene
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41246724_41246733dupCCACATGGCT; NC_000017.10:g.41246724_41246734dupCCACATGGCTC
CLNSRC
CLNACC RCV000074602.2, RCV000049155.2,