Gene entry
TREX1
three prime repair exonuclease 1
- Chromosome
- 3
- Cytoband
- 3p21.31
- Variants (rsID)
- 8
TREX1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p21.31). Its official name is “three prime repair exonuclease 1”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs55999987Conflicting interpretationssingle nucleotide variantRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Aicardi Goutieres syndrome|Aicardi-Goutieres syndrome 1|Chilblain lupus 1|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Aicardi-Goutieres syndrome 1|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- rs72556554Conflicting interpretationssingle nucleotide variantAicardi-Goutieres syndrome 1|Systemic lupus erythematosus, susceptibility to|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Aicardi-Goutieres syndrome 1|Chilblain lupus 1|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Inborn genetic diseases|Inborn genetic diseases|Aicardi-Goutieres syndrome 1|Chilblain lupus 1
- rs121908117Pathogenicsingle nucleotide variantAicardi Goutieres syndrome 1, autosomal dominant|Aicardi-Goutieres syndrome 1|Aicardi-Goutieres syndrome 1|Chilblain lupus 1|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Chilblain lupus
- rs76642637PathogenicDeletionAicardi-Goutieres syndrome 1
- rs78218009Pathogenicsingle nucleotide variantAicardi-Goutieres syndrome 1|Chilblain lupus 1|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations|Aicardi-Goutieres syndrome 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.