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rs80357886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357886(-;-)
Make rs80357886(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43051109
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357886
ebirs80357886
HLIrs80357886
Exacrs80357886
Varsomers80357886
Maprs80357886
PheGenIrs80357886
hapmaprs80357886
1000 genomesrs80357886
hgdprs80357886
ensemblrs80357886
gopubmedrs80357886
geneviewrs80357886
scholarrs80357886
googlers80357886
pharmgkbrs80357886
gwascentralrs80357886
openSNPrs80357886
23andMers80357886
23andMe allrs80357886
SNP Nexus

SNPshotrs80357886
SNPdbers80357886
MSV3drs80357886
GWAS Ctlgrs80357886
Max Magnitude6
rs80357886, also known as 5404insG, c.5285_5286insG and p.Arg1762?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357886(G;G)
Alt rs80357886(G;G)
Reference rs80357886(;)
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.41203123dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048912.2, RCV000112602.1,