TREX1 Chromosome 3
Three prime repair exonuclease 1
Upload your DNA to see your personal genotypes for variants in TREX1.
What This Gene Does
This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
Gene Info
Gene Group
"Exonucleases|SET complex"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000213689
Associated Conditions (17)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus 1
Aicardi-Goutieres syndrome 1
Inborn genetic diseases
Systemic lupus erythematosus
Intellectual disability
TREX1-related disorder
See cases
Chilblain lupus
Thrombotic microangiopathy
Neurodevelopmental disorder
Retinal dystrophy
susceptibility to
Adult onset neurodegenerative disorder
autosomal dominant
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Aicardi Goutieres syndrome
Key Variants
RS1356874913
Conflicting classifications of pathogenicity
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1, Aicardi-Goutieres syndrome 1
Health Risk
RS139228069
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1
Health Risk
RS140199177
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 1, Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Health Risk
RS1553820434
Conflicting classifications of pathogenicity
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1, Aicardi-Goutieres syndrome 1
Health Risk
RS200440528
Conflicting classifications of pathogenicity
Intellectual disability, TREX1-related disorder, Intellectual disability
Health Risk
RS200510205
Conflicting classifications of pathogenicity
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Health Risk
RS200773268
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1
Health Risk
RS201068640
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1
Health Risk
RS2107265153
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1
Health Risk
RS2530046089
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1
Health Risk
RS374232562
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1
Health Risk
RS55852466
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1
Health Risk
All Variants (95)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1356874913 | Health Risk | Conflicting classifications of pathogenicity | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1, Aicardi-Goutieres syndrome 1 |
| RS139228069 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS140199177 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| RS1553820434 | Health Risk | Conflicting classifications of pathogenicity | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1, Aicardi-Goutieres syndrome 1 |
| RS200440528 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, TREX1-related disorder, Intellectual disability |
| RS200510205 | Health Risk | Conflicting classifications of pathogenicity | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| RS200773268 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS201068640 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS2107265153 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS2530046089 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS374232562 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS55852466 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS56162833 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS72556555 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| RS749323787 | Health Risk | Conflicting classifications of pathogenicity | TREX1-related disorder, Aicardi-Goutieres syndrome 1, TREX1-related disorder |
| RS755919767 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS758622317 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS760838030 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Chilblain lupus 1, Systemic lupus erythematosus |
| RS761165865 | Health Risk | Conflicting classifications of pathogenicity | Systemic lupus erythematosus, Aicardi-Goutieres syndrome 1, Chilblain lupus 1 |
| RS761651331 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| RS762011967 | Health Risk | Conflicting classifications of pathogenicity | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1, Chilblain lupus 1 |
| RS76224909 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| RS762687506 | Health Risk | Conflicting classifications of pathogenicity | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1, Chilblain lupus 1 |
| RS766785968 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS777034646 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, See cases, Aicardi-Goutieres syndrome 1 |
| RS778992418 | Health Risk | Conflicting classifications of pathogenicity | Chilblain lupus 1, Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| RS781731683 | Health Risk | Conflicting classifications of pathogenicity | Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1 |
| RS78948846 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 1, Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| RS1131691368 | Health Risk | Likely pathogenic | — |
| RS1553820461 | Health Risk | Likely pathogenic | — |
| RS1553820518 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS1575292873 | Health Risk | Likely pathogenic | Chilblain lupus, Systemic lupus erythematosus, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| RS1575294269 | Health Risk | Likely pathogenic | — |
| RS1575295176 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1 |
| RS2107255387 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1 |
| RS2107265386 | Health Risk | Likely pathogenic | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| RS2107265602 | Health Risk | Likely pathogenic | Thrombotic microangiopathy, Thrombotic microangiopathy |
| RS2107265977 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS2530034152 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2530040403 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1 |
| RS2530041997 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1 |
| RS2530042757 | Health Risk | Likely pathogenic | — |
| RS2530048530 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS72556554 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 1, Systemic lupus erythematosus, susceptibility to |
| RS74556809 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 1, Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| RS74876396 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1 |
| RS757478752 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1 |
| RS781051771 | Health Risk | Likely pathogenic | — |
| RS78762691 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1 |
| RS121908117 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 1, autosomal dominant, Chilblain lupus 1 |