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rs80357858

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357858(-;-)
Make rs80357858(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092273
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357858
ebirs80357858
HLIrs80357858
Exacrs80357858
Varsomers80357858
Maprs80357858
PheGenIrs80357858
hapmaprs80357858
1000 genomesrs80357858
hgdprs80357858
ensemblrs80357858
gopubmedrs80357858
geneviewrs80357858
scholarrs80357858
googlers80357858
pharmgkbrs80357858
gwascentralrs80357858
openSNPrs80357858
23andMers80357858
23andMe allrs80357858
SNP Nexus

SNPshotrs80357858
SNPdbers80357858
MSV3drs80357858
GWAS Ctlgrs80357858
Max Magnitude6
rs80357858, also known as 3376insT, c.3257_3258insT and p.Leu1086?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357858(T;T)
Alt rs80357858(T;T)
Reference rs80357858(;)
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.41244291dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048115.2, RCV000112039.1,