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rs80357811

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357811(-;-)
Make rs80357811(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43124064
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357811
ebirs80357811
HLIrs80357811
Exacrs80357811
Varsomers80357811
Maprs80357811
PheGenIrs80357811
hapmaprs80357811
1000 genomesrs80357811
hgdprs80357811
ensemblrs80357811
gopubmedrs80357811
geneviewrs80357811
scholarrs80357811
googlers80357811
pharmgkbrs80357811
gwascentralrs80357811
openSNPrs80357811
23andMers80357811
23andMe allrs80357811
SNP Nexus

SNPshotrs80357811
SNPdbers80357811
MSV3drs80357811
GWAS Ctlgrs80357811
Max Magnitude6
rs80357811, also known as 151insC, c.32_33insC and p.Val11?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357811(C;C)
Alt rs80357811(C;C)
Reference rs80357811(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene NBR2 BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41276081_41276082insG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048134.2, RCV000111610.1,