TREX1 (three prime repair exonuclease 1) - Rat Genome Database

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Gene: TREX1 (three prime repair exonuclease 1) Homo sapiens
Analyze
Symbol: TREX1
Name: three prime repair exonuclease 1
RGD ID: 1323748
HGNC Page HGNC:12269
Description: Enables MutLalpha complex binding activity; MutSalpha complex binding activity; and double-stranded DNA 3'-5' DNA exonuclease activity. Involved in negative regulation of cGAS/STING signaling pathway and negative regulation of innate immune response. Located in cytosol and endoplasmic reticulum membrane. Implicated in Aicardi-Goutieres syndrome; Chilblain lupus; retinal vasculopathy with cerebral leukodystrophy; and systemic lupus erythematosus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3' repair exonuclease 1; 3'-5' exonuclease TREX1; AGS1; Aicardi-Goutieres syndrome 1; CRV; deoxyribonuclease III; deoxyribonuclease III, dnaQ/mutD-like; DKFZp434J0310; DNase III; DRN3; HERNS; RVCLS; three-prime repair exonuclease 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: GeneID 11277 was annotated as a single gene with two non-overlapping coding regions. GeneID 11277 now represents only the downstream coding region encoding three prime repair exonuclease 1. The upstream coding region is represented by geneID 84126. [29 May 2007]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38348,465,830 - 48,467,645 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl348,465,811 - 48,467,645 (+)EnsemblGRCh38hg38GRCh38
GRCh37348,507,229 - 48,509,044 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36348,482,233 - 48,484,048 (+)NCBINCBI36Build 36hg18NCBI36
Build 34348,463,221 - 48,482,058NCBI
Celera348,458,088 - 48,459,903 (+)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef348,560,949 - 48,563,074 (+)NCBIHuRef
CHM1_1348,459,219 - 48,461,344 (+)NCBICHM1_1
T2T-CHM13v2.0348,493,835 - 48,495,650 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of immune response  (IEA,ISO)
adaptive immune response  (IEA,ISO)
apoptotic cell clearance  (IEA,ISO)
atrial cardiac muscle tissue development  (IEA,ISO)
blood vessel development  (IEA,ISO)
CD86 biosynthetic process  (IEA,ISO)
cellular response to gamma radiation  (IEA,ISO)
cellular response to hydroxyurea  (IEA,ISO)
cellular response to interferon-beta  (IEA,ISO)
cellular response to oxidative stress  (IEA,ISO)
cellular response to reactive oxygen species  (IEA,ISO)
cellular response to type I interferon  (IEA,ISO)
cellular response to UV  (IEA,ISO)
defense response to virus  (IEA,ISO)
determination of adult lifespan  (IEA,ISO)
DNA catabolic process  (IBA,IEA,ISO)
DNA damage checkpoint signaling  (IEA,ISO)
DNA damage response  (IEA,ISO)
DNA metabolic process  (IEA,ISS)
DNA modification  (IEA,ISO)
DNA recombination  (NAS)
DNA repair  (TAS)
DNA replication  (IEA,ISO,NAS)
DNA synthesis involved in UV-damage excision repair  (IEA,ISO)
establishment of protein localization  (IEA,ISO)
generation of precursor metabolites and energy  (IEA,ISO)
heart morphogenesis  (IEA,ISO)
heart process  (IEA,ISO)
immune complex formation  (IEA,ISO)
immune response  (IEA,ISO)
immune response in brain or nervous system  (IEA,ISO)
inflammatory response  (IEA,ISO)
inflammatory response to antigenic stimulus  (IEA,ISO)
innate immune response  (IEA,ISO)
kidney development  (IEA,ISO)
lymphoid progenitor cell differentiation  (IEA,ISO)
macrophage activation involved in immune response  (IEA,ISO)
mismatch repair  (NAS)
mitotic G1 DNA damage checkpoint signaling  (IEA,ISO)
negative regulation of cGAS/STING signaling pathway  (IDA)
negative regulation of innate immune response  (IDA)
negative regulation of type I interferon-mediated signaling pathway  (IEA,ISO)
organ or tissue specific immune response  (IEA,ISO)
protein stabilization  (IEA,ISO)
regulation of catalytic activity  (ISO)
regulation of cellular respiration  (IEA,ISO)
regulation of fatty acid metabolic process  (IEA,ISO)
regulation of gene expression  (IEA,ISO)
regulation of glycolytic process  (IEA,ISO)
regulation of immunoglobulin production  (IEA,ISO)
regulation of inflammatory response  (IEA,ISO)
regulation of innate immune response  (IEA,ISO)
regulation of lipid biosynthetic process  (IEA,ISO)
regulation of lysosome organization  (IEA,ISO)
regulation of metabolic process  (IEA,ISO)
regulation of protein complex stability  (IEA,ISO)
regulation of T cell activation  (IEA,ISO)
regulation of tumor necrosis factor production  (IEA,ISO)
regulation of type I interferon production  (IEA,ISO)
response to UV  (IEA,ISO)
retrotransposition  (IEA,ISO)
T cell antigen processing and presentation  (IEA,ISO)
type I interferon-mediated signaling pathway  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Abnormal nail morphology  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal pigmentation of the oral mucosa  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal pyramidal tract morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of salivation  (IAGP)
Abnormality of the hepatic vasculature  (IAGP)
Absent speech  (IAGP)
Acrocyanosis  (IAGP)
Adult onset  (IAGP)
Alopecia  (IAGP)
Anorexia  (IAGP)
Anti-complement component C1q antibody positivity  (IAGP)
Anti-dsDNA antibody positivity  (IAGP)
Anti-La/SS-B antibody positivity  (IAGP)
Anti-nucleoporin 62 antibody positivity  (IAGP)
Anti-phosphatidic acid antibody positivity  (IAGP)
Anti-ribosome Po antibody positivity  (IAGP)
Anti-Ro52/TRIM21 antibody positivity  (IAGP)
Anti-Sm antibody positivity  (IAGP)
Anti-titin antibody positivity  (IAGP)
Anti-U1 ribonucleoprotein antibody positivity  (IAGP)
Antineutrophil antibody positivity  (IAGP)
Antinuclear antibody positivity  (IAGP)
Antiphospholipid antibody positivity  (IAGP)
Anxiety  (IAGP)
Aortic aneurysm  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Apraxia  (IAGP)
Arrhinencephaly  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Atypical behavior  (IAGP)
Autoamputation of digits  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Axial hypotonia  (IAGP)
Basal ganglia calcification  (IAGP)
Brain atrophy  (IAGP)
Brain imaging abnormality  (IAGP)
Calcification of the aorta  (IAGP)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Central nervous system degeneration  (IAGP)
Cerebellar calcifications  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral calcification  (IAGP)
Cheilitis  (IAGP)
Chilblains  (IAGP)
Childhood onset  (IAGP)
Chorea  (IAGP)
Chronic CSF lymphocytosis  (IAGP)
Chronic lymphatic leukemia  (IAGP)
CNS demyelination  (IAGP)
Cognitive impairment  (IAGP)
Compensated hypothyroidism  (IAGP)
Convex nasal ridge  (IAGP)
CSF lymphocytic pleiocytosis  (IAGP)
Cutaneous photosensitivity  (IAGP)
Cutis marmorata  (IAGP)
Decreased circulating complement C3 concentration  (IAGP)
Decreased circulating complement C4 concentration  (IAGP)
Deep white matter hypodensities  (IAGP)
Degeneration of the striatum  (IAGP)
Dementia  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Depression  (IAGP)
Developmental glaucoma  (IAGP)
Developmental regression  (IAGP)
Diabetes insipidus  (IAGP)
Diabetes mellitus  (IAGP)
Diminished ability to concentrate  (IAGP)
Discoid lupus rash  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dystonia  (IAGP)
Edema  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
Enchondroma  (IAGP)
Erythema  (IAGP)
Extrapyramidal muscular rigidity  (IAGP)
Eyelid coloboma  (IAGP)
Fatigue  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Focal hyperintensity of cerebral white matter on MRI  (IAGP)
Focal hypointensity of cerebral white matter on MRI  (IAGP)
Focal sensory seizure with somatosensory features  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Generalized-onset seizure  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Glomerular sclerosis  (IAGP)
Headache  (IAGP)
Hematuria  (IAGP)
Hemianopia  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hemolytic anemia  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hoarse voice  (IAGP)
Hypertension  (IAGP)
Hypertonia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypothyroidism  (IAGP)
Inability to walk  (IAGP)
Increased circulating interferon-gamma concentration  (IAGP)
Increased CSF interferon alpha  (IAGP)
Infantile onset  (IAGP)
Intellectual disability, profound  (IAGP)
Intracerebral periventricular calcifications  (IAGP)
Irritability  (IAGP)
Leukodystrophy  (IAGP)
Leukoencephalopathy  (IAGP)
Leukopenia  (IAGP)
Limb pain  (IAGP)
Lipoatrophy  (IAGP)
Loss of speech  (IAGP)
Low-set ears  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lupus nephritis  (IAGP)
Lymphadenopathy  (IAGP)
Macular edema  (IAGP)
Malaise  (IAGP)
Malar rash  (IAGP)
Memory impairment  (IAGP)
Microcephaly  (IAGP)
Micronodular cirrhosis  (IAGP)
Micropenis  (IAGP)
Migraine  (IAGP)
Migraine with aura  (IAGP)
Migraine without aura  (IAGP)
Moyamoya phenomenon  (IAGP)
Multifocal cerebral white matter abnormalities  (IAGP)
Multiple gastric polyps  (IAGP)
Multiple joint contractures  (IAGP)
Muscle stiffness  (IAGP)
Myositis  (IAGP)
Neonatal alloimmune thrombocytopenia  (IAGP)
Nephritis  (IAGP)
Nephropathy  (IAGP)
Nodular regenerative hyperplasia of liver  (IAGP)
Normochromic anemia  (IAGP)
Normocytic anemia  (IAGP)
Nystagmus  (IAGP)
Oral ulcer  (IAGP)
Panniculitis  (IAGP)
Pericarditis  (IAGP)
Petechiae  (IAGP)
Plagiocephaly  (IAGP)
Pleuritis  (IAGP)
Pneumonia  (IAGP)
Polyarticular arthritis  (IAGP)
Poor head control  (IAGP)
Porencephalic cyst  (IAGP)
Progressive  (IAGP)
Progressive encephalopathy  (IAGP)
Progressive forgetfulness  (IAGP)
Progressive microcephaly  (IAGP)
Progressive neurologic deterioration  (IAGP)
Progressive visual loss  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Proteinuria  (IAGP)
Psychosis  (IAGP)
Ptosis  (IAGP)
Punctate vasculitis skin lesions  (IAGP)
Purpura  (IAGP)
Pyuria  (IAGP)
Raynaud phenomenon  (IAGP)
Retinal cotton wool spot  (IAGP)
Retinal dystrophy  (IAGP)
Retinal exudate  (IAGP)
Retinal hemorrhage  (IAGP)
Retinal neovascularization  (IAGP)
Retinopathy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-mutilation  (IAGP)
Sepsis  (IAGP)
Serositis  (IAGP)
Short stature  (IAGP)
Skin rash  (IAGP)
Skin ulcer  (IAGP)
Spastic paraparesis  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Systemic lupus erythematosus  (IAGP)
Telangiectasia  (IAGP)
Thrombocytopenia  (IAGP)
Tremor  (IAGP)
Unexplained fevers  (IAGP)
Vasculitis  (IAGP)
Vasculitis in the skin  (IAGP)
Ventriculomegaly  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Weakness of facial musculature  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ATR and ATRIP: partners in checkpoint signaling. Cortez D, etal., Science. 2001 Nov 23;294(5547):1713-6.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:3239950   PMID:8206943   PMID:8592332   PMID:8889549   PMID:9851434   PMID:10391904   PMID:10393201   PMID:10827106   PMID:11278605   PMID:11279105   PMID:12477932   PMID:12624136  
PMID:14702039   PMID:15489334   PMID:16189514   PMID:16344560   PMID:16818237   PMID:16845398   PMID:17081983   PMID:17224176   PMID:17293595   PMID:17355961   PMID:17357087   PMID:17440703  
PMID:17660818   PMID:17660820   PMID:17846997   PMID:18045533   PMID:18092167   PMID:18406216   PMID:18583934   PMID:18724932   PMID:18805785   PMID:19120481   PMID:19266025   PMID:19362700  
PMID:19442247   PMID:19478477   PMID:19617005   PMID:20192983   PMID:20301334   PMID:20301648   PMID:20496420   PMID:20511593   PMID:20799324   PMID:20871604   PMID:21103663   PMID:21270825  
PMID:21478870   PMID:21516116   PMID:21808053   PMID:21873635   PMID:21937424   PMID:22071149   PMID:22367235   PMID:22526516   PMID:22658674   PMID:22829693   PMID:22893130   PMID:23251661  
PMID:23578789   PMID:23602593   PMID:23681011   PMID:23773365   PMID:23881107   PMID:23979357   PMID:24034389   PMID:24224166   PMID:24270665   PMID:24300241   PMID:24501781   PMID:24616097  
PMID:24813208   PMID:25162766   PMID:25213617   PMID:25278026   PMID:25416956   PMID:25517357   PMID:25731743   PMID:25906927   PMID:25910212   PMID:26150267   PMID:26567509   PMID:27184854  
PMID:27574969   PMID:27617966   PMID:27643693   PMID:27881153   PMID:27886180   PMID:28089741   PMID:28279982   PMID:28297665   PMID:28325644   PMID:28334850   PMID:28389709   PMID:28475463  
PMID:28514442   PMID:28803918   PMID:28835460   PMID:28919362   PMID:29769349   PMID:30062819   PMID:30219631   PMID:30674977   PMID:30685859   PMID:30804502   PMID:31318583   PMID:31326279  
PMID:31475890   PMID:31536185   PMID:31861565   PMID:32293470   PMID:32296183   PMID:32586373   PMID:32615442   PMID:32719516   PMID:32814053   PMID:33476576   PMID:33606975   PMID:33845483  
PMID:33868310   PMID:33870849   PMID:33892200   PMID:33961781   PMID:34303877   PMID:34400195   PMID:34519260   PMID:34551315   PMID:35349719   PMID:35357486   PMID:35468328   PMID:35879334  
PMID:36215168   PMID:36586737   PMID:36949045   PMID:37298611   PMID:37728706   PMID:38129659   PMID:38408184   PMID:38489753   PMID:38675842   PMID:38796715   PMID:38824133   PMID:38926338  


Genomics

Comparative Map Data
TREX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38348,465,830 - 48,467,645 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl348,465,811 - 48,467,645 (+)EnsemblGRCh38hg38GRCh38
GRCh37348,507,229 - 48,509,044 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36348,482,233 - 48,484,048 (+)NCBINCBI36Build 36hg18NCBI36
Build 34348,463,221 - 48,482,058NCBI
Celera348,458,088 - 48,459,903 (+)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef348,560,949 - 48,563,074 (+)NCBIHuRef
CHM1_1348,459,219 - 48,461,344 (+)NCBICHM1_1
T2T-CHM13v2.0348,493,835 - 48,495,650 (+)NCBIT2T-CHM13v2.0
Trex1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399108,887,000 - 108,888,791 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9108,887,001 - 108,888,802 (-)EnsemblGRCm39 Ensembl
GRCm389109,057,932 - 109,059,723 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9109,057,933 - 109,059,734 (-)EnsemblGRCm38mm10GRCm38
MGSCv379108,960,446 - 108,962,237 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369108,915,338 - 108,917,129 (-)NCBIMGSCv36mm8
Celera9108,616,714 - 108,618,505 (-)NCBICelera
Cytogenetic Map9F2NCBI
cM Map959.63NCBI
Trex1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88118,585,082 - 118,586,382 (-)NCBIGRCr8
mRatBN7.28109,706,613 - 109,707,913 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8109,706,613 - 109,708,796 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8115,321,502 - 115,322,802 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08113,520,676 - 113,521,976 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08111,363,483 - 111,364,783 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08117,796,127 - 117,797,427 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8117,796,128 - 117,797,427 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08117,147,872 - 117,149,172 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48114,071,508 - 114,072,509 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18114,092,776 - 114,106,801 (-)NCBI
Celera8108,998,058 - 108,999,059 (-)NCBICelera
Cytogenetic Map8q32NCBI
Trex1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955532533,877 - 535,767 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955532533,877 - 535,767 (+)NCBIChiLan1.0ChiLan1.0
TREX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2248,440,555 - 48,442,557 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1348,445,488 - 48,447,908 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0348,387,762 - 48,389,693 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1349,469,406 - 49,471,371 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl349,470,222 - 49,471,331 (+)Ensemblpanpan1.1panPan2
TREX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12040,624,845 - 40,626,840 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2040,624,891 - 40,626,906 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2040,542,323 - 40,544,332 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02041,110,233 - 41,112,242 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2041,107,235 - 41,112,226 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12040,347,667 - 40,349,676 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02040,752,252 - 40,754,261 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02041,032,948 - 41,034,957 (-)NCBIUU_Cfam_GSD_1.0
Trex1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560263,503,993 - 63,505,949 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936529264,468 - 266,422 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936529264,535 - 266,451 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TREX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1331,179,291 - 31,180,747 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11331,177,604 - 31,180,764 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21334,561,987 - 34,563,735 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TREX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1229,869,502 - 9,871,659 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041157,219,548 - 157,221,411 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trex1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247302,431,999 - 2,432,959 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247302,431,270 - 2,433,010 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TREX1
512 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_033629.6(TREX1):c.219G>A (p.Pro73=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002527552]|not provided [RCV003231629]|not specified [RCV000517608] Chr3:48466874 [GRCh38]
Chr3:48508273 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.388G>C (p.Asp130His) single nucleotide variant not provided [RCV000522259] Chr3:48467043 [GRCh38]
Chr3:48508442 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.375dup (p.Gly126fs) duplication Aicardi-Goutieres syndrome 1 [RCV005031387]|Chilblain lupus [RCV001804149]|not provided [RCV004719620] Chr3:48467029..48467030 [GRCh38]
Chr3:48508428..48508429 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
TREX1, 1-BP INS, 3688G insertion Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000004403] Chr3:3p21.3-p21.2 pathogenic
NM_033629.6(TREX1):c.703_706dup (p.Thr236fs) duplication Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000004406] Chr3:48467357..48467358 [GRCh38]
Chr3:48508756..48508757 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.703dup (p.Val235fs) duplication Aicardi-Goutieres syndrome 1 [RCV000795266]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000004403]|not provided [RCV000519088] Chr3:48467354..48467355 [GRCh38]
Chr3:48508753..48508754 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.145A>G (p.Thr49Ala) single nucleotide variant not provided [RCV001722444] Chr3:48466800 [GRCh38]
Chr3:48508199 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.341G>A (p.Arg114His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000004396]|Aicardi-Goutieres syndrome 1 [RCV000850611]|Aicardi-Goutieres syndrome 1 [RCV002281693]|Aicardi-Goutieres syndrome 1 [RCV005025005]|Inborn genetic diseases [RCV001266495]|Systemic lupus erythematosus, susceptibility to [RCV000004397]|TREX1-related disorder [RCV004540989]|not provided [RCV000256102] Chr3:48466996 [GRCh38]
Chr3:48508395 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|risk factor|benign|likely benign
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000004398]|Aicardi-Goutieres syndrome 1 [RCV001384591]|TREX1-related disorder [RCV004532286]|not provided [RCV000378411] Chr3:48467145 [GRCh38]
Chr3:48508544 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) duplication Aicardi-Goutieres syndrome 1 [RCV000004399]|Aicardi-Goutieres syndrome 1 [RCV001063407]|Aicardi-Goutieres syndrome 1 [RCV005025006]|not provided [RCV001794431] Chr3:48467251..48467252 [GRCh38]
Chr3:48508650..48508651 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000004400]|not provided [RCV001093076] Chr3:48467257 [GRCh38]
Chr3:48508656 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000114331]|Aicardi-Goutieres syndrome 1 [RCV002512754]|Aicardi-Goutieres syndrome 1, autosomal dominant [RCV000004402] Chr3:48467253 [GRCh38]
Chr3:48508652 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000114329]|Aicardi-Goutieres syndrome 1 [RCV000819829]|Aicardi-Goutieres syndrome 1, autosomal dominant [RCV000004405]|Chilblain lupus [RCV001804150]|not provided [RCV000323773] Chr3:48466707 [GRCh38]
Chr3:48508106 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV000114323]|Aicardi-Goutieres syndrome 1 [RCV003764807]|not provided [RCV001781439] Chr3:48466860..48466861 [GRCh38]
Chr3:48508259..48508260 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|not provided
NM_033629.6(TREX1):c.365T>C (p.Val122Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000114324] Chr3:48467020 [GRCh38]
Chr3:48508419 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla) duplication Aicardi-Goutieres syndrome 1 [RCV000114325]|Aicardi-Goutieres syndrome 1 [RCV000850612] Chr3:48467020..48467021 [GRCh38]
Chr3:48508419..48508420 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) duplication Aicardi-Goutieres syndrome 1 [RCV000114326]|not provided [RCV002460916] Chr3:48467047..48467048 [GRCh38]
Chr3:48508446..48508447 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|not provided
NM_033629.6(TREX1):c.397del (p.Leu133fs) deletion Aicardi-Goutieres syndrome 1 [RCV000114327] Chr3:48467048 [GRCh38]
Chr3:48508447 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.500del (p.Ser167fs) deletion Aicardi-Goutieres syndrome 1 [RCV000114328]|Aicardi-Goutieres syndrome 1 [RCV002513942]|Aicardi-Goutieres syndrome 1 [RCV005031598]|not provided [RCV000726332] Chr3:48467155 [GRCh38]
Chr3:48508554 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|not provided
NM_033629.6(TREX1):c.58dup (p.Glu20fs) duplication Aicardi-Goutieres syndrome 1 [RCV000114330]|Aicardi-Goutieres syndrome 1 [RCV001384732]|TREX1-related disorder [RCV001731376]|not provided [RCV003137626] Chr3:48466711..48466712 [GRCh38]
Chr3:48508110..48508111 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.609_662dup (p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla) duplication Aicardi-Goutieres syndrome 1 [RCV000114332] Chr3:48467261..48467262 [GRCh38]
Chr3:48508660..48508661 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) duplication Aicardi-Goutieres syndrome 1 [RCV000114333] Chr3:48467277..48467278 [GRCh38]
Chr3:48508676..48508677 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) deletion Aicardi Goutieres syndrome [RCV003153362]|Aicardi-Goutieres syndrome 1 [RCV000114334]|Aicardi-Goutieres syndrome 1 [RCV000805420]|Aicardi-Goutieres syndrome 1 [RCV002490761]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV004595923]|TREX1-related disorder [RCV004529915]|not provided [RCV002262706] Chr3:48467514..48467531 [GRCh38]
Chr3:48508913..48508930 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000114335]|Aicardi-Goutieres syndrome 1 [RCV002513943]|not provided [RCV003237442] Chr3:48467562 [GRCh38]
Chr3:48508961 [GRCh37]
Chr3:3p21.31		 pathogenic|uncertain significance|not provided
NM_033629.6(TREX1):c.531= (p.Tyr177=) single nucleotide variant Aicardi Goutieres syndrome [RCV000405847]|Aicardi-Goutieres syndrome 1 [RCV001511091]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000341237]|not provided [RCV000713867]|not specified [RCV000082324] Chr3:48467186 [GRCh38]
Chr3:48508585 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) single nucleotide variant Aicardi Goutieres syndrome [RCV000300719]|Aicardi-Goutieres syndrome 1 [RCV001082165]|Aicardi-Goutieres syndrome 1 [RCV002281915]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000262094]|TREX1-related disorder [RCV004732658]|not provided [RCV000431072]|not specified [RCV000082325] Chr3:48467452 [GRCh38]
Chr3:48508851 [GRCh37]
Chr3:3p21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2		 pathogenic
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000191136]|Aicardi-Goutieres syndrome 1 [RCV000763111]|Aicardi-Goutieres syndrome 1 [RCV001857680]|TREX1-related disorder [RCV004732774]|not provided [RCV001843490] Chr3:48466995 [GRCh38]
Chr3:48508394 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.212_213del (p.Val71fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV000191137]|Aicardi-Goutieres syndrome 1 [RCV001857681] Chr3:48466861..48466862 [GRCh38]
Chr3:48508260..48508261 [GRCh37]
Chr3:3p21.31		 pathogenic
GRCh37/hg19 3p21.31(chr3:48501854-48541490)x3 copy number gain Breast ductal adenocarcinoma [RCV000207132] Chr3:48501854..48541490 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.400C>T (p.Leu134Phe) single nucleotide variant Inborn genetic diseases [RCV004678650]|not provided [RCV000224613] Chr3:48467055 [GRCh38]
Chr3:48508454 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.152_153del (p.Gln51fs) deletion Aicardi-Goutieres syndrome 1 [RCV005025421]|not provided [RCV000318517] Chr3:48466807..48466808 [GRCh38]
Chr3:48508206..48508207 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.899C>T (p.Ala300Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000547786] Chr3:48467554 [GRCh38]
Chr3:48508953 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.4(TREX1):c.-199A>G single nucleotide variant Aicardi Goutieres syndrome [RCV000285987]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000380457] Chr3:48466137 [GRCh38]
Chr3:48507536 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.312G>C (p.Leu104=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000278897]|Aicardi-Goutieres syndrome 1 [RCV000887494]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000317526]|TREX1-related disorder [RCV004544643] Chr3:48466967 [GRCh38]
Chr3:48508366 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.4(TREX1):c.-117C>T single nucleotide variant Aicardi Goutieres syndrome [RCV000282621]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000337669] Chr3:48466219 [GRCh38]
Chr3:48507618 [GRCh37]
Chr3:3p21.31		 likely benign
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31		 likely pathogenic
NM_033629.6(TREX1):c.912G>A (p.Leu304=) single nucleotide variant Aicardi Goutieres syndrome [RCV000260731]|Aicardi-Goutieres syndrome 1 [RCV000537156]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000353208]|not provided [RCV001795465]|not specified [RCV000242644] Chr3:48467567 [GRCh38]
Chr3:48508966 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_033629.6(TREX1):c.198G>A (p.Lys66=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000265759]|Aicardi-Goutieres syndrome 1 [RCV000533810]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000318491]|not provided [RCV004716072]|not specified [RCV000516659] Chr3:48466853 [GRCh38]
Chr3:48508252 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_033629.4(TREX1):c.-515T>C single nucleotide variant Aicardi Goutieres syndrome [RCV000314036]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000277604] Chr3:48465821 [GRCh38]
Chr3:48507220 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.9G>A (p.Ser3=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000364247]|Aicardi-Goutieres syndrome 1 [RCV000952205]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000267295]|TREX1-related disorder [RCV004544641] Chr3:48466664 [GRCh38]
Chr3:48508063 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_033629.6(TREX1):c.-68T>C single nucleotide variant Aicardi Goutieres syndrome [RCV000352883]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000406520]|not provided [RCV000840618] Chr3:48466268 [GRCh38]
Chr3:48507667 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.418A>G (p.Met140Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000290171]|Aicardi-Goutieres syndrome 1 [RCV000813186]|Inborn genetic diseases [RCV004021919]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000347510] Chr3:48467073 [GRCh38]
Chr3:48508472 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.4(TREX1):c.-127G>C single nucleotide variant Aicardi Goutieres syndrome [RCV000322393]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000376993] Chr3:48466209 [GRCh38]
Chr3:48507608 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.462T>C (p.Asp154=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000307455]|Aicardi-Goutieres syndrome 1 [RCV000544168]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000402965]|not provided [RCV001795963]|not specified [RCV001530084] Chr3:48467117 [GRCh38]
Chr3:48508516 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_033629.6(TREX1):c.183G>A (p.Pro61=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000324543]|Aicardi-Goutieres syndrome 1 [RCV000644056]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000358290]|TREX1-related disorder [RCV004544642] Chr3:48466838 [GRCh38]
Chr3:48508237 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_033629.4(TREX1):c.-287C>T single nucleotide variant Aicardi Goutieres syndrome [RCV000329267]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000365197] Chr3:48466049 [GRCh38]
Chr3:48507448 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000393710]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000348530]|not specified [RCV004782369] Chr3:48467049 [GRCh38]
Chr3:48508448 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.-60C>T single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000365442]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000313118] Chr3:48466276 [GRCh38]
Chr3:48507675 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.*37T>C single nucleotide variant Aicardi Goutieres syndrome [RCV000332317]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000386027]|not provided [RCV001672632] Chr3:48467637 [GRCh38]
Chr3:48509036 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.4(TREX1):c.-206G>T single nucleotide variant Aicardi Goutieres syndrome [RCV000325692]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000270579] Chr3:48466130 [GRCh38]
Chr3:48507529 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.4(TREX1):c.-510delC deletion Aicardi Goutieres syndrome [RCV000368756]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000273941] Chr3:48465825 [GRCh38]
Chr3:48507224 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.294dup (p.Cys99fs) duplication Aicardi-Goutieres syndrome 1 [RCV000490271]|Aicardi-Goutieres syndrome 1 [RCV000806372]|Aicardi-Goutieres syndrome 1 [RCV005031788]|not provided [RCV001008124] Chr3:48466947..48466948 [GRCh38]
Chr3:48508346..48508347 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|likely benign
NM_033629.6(TREX1):c.-100C>T single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000407940]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000279224] Chr3:48466236 [GRCh38]
Chr3:48507635 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000408633] Chr3:48467284 [GRCh38]
Chr3:48508683 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.144dup (p.Thr49fs) duplication Aicardi-Goutieres syndrome 1 [RCV001251136]|Aicardi-Goutieres syndrome 1 [RCV001859564]|Aicardi-Goutieres syndrome 1 [RCV002494829]|TREX1-related disorder [RCV004535288]|not provided [RCV000512682] Chr3:48466792..48466793 [GRCh38]
Chr3:48508191..48508192 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.23C>T (p.Pro8Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001367616]|Inborn genetic diseases [RCV002547874] Chr3:48466678 [GRCh38]
Chr3:48508077 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.290G>A (p.Arg97His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000490435]|Aicardi-Goutieres syndrome 1 [RCV001853392]|Aicardi-Goutieres syndrome 1 [RCV005025345]|not provided [RCV001093075] Chr3:48466945 [GRCh38]
Chr3:48508344 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.-50CTGC[4] microsatellite Aicardi Goutieres syndrome [RCV000404565]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000307137]|not provided [RCV004695747] Chr3:48466286..48466289 [GRCh38]
Chr3:48507685..48507688 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000302094]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000359123] Chr3:48467191 [GRCh38]
Chr3:48508590 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.748dup (p.Thr250fs) duplication not provided [RCV000598961] Chr3:48467401..48467402 [GRCh38]
Chr3:48508800..48508801 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000764510]|Aicardi-Goutieres syndrome 1 [RCV000812216]|Retinal dystrophy [RCV004816646]|TREX1-related disorder [RCV004732868]|not provided [RCV000416230] Chr3:48467578 [GRCh38]
Chr3:48508977 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.299T>C (p.Phe100Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001862163]|Inborn genetic diseases [RCV002535100]|not provided [RCV000728986] Chr3:48466954 [GRCh38]
Chr3:48508353 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001330236]|Aicardi-Goutieres syndrome 1 [RCV001340342]|Aicardi-Goutieres syndrome 1 [RCV005027489]|not provided [RCV000433529]|not specified [RCV004701472] Chr3:48467322 [GRCh38]
Chr3:48508721 [GRCh37]
Chr3:3p21.31		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.391T>G (p.Phe131Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001368721]|not provided [RCV000484763] Chr3:48467046 [GRCh38]
Chr3:48508445 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.695T>G (p.Met232Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001856971]|not provided [RCV000494190] Chr3:48467350 [GRCh38]
Chr3:48508749 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.370C>G (p.His124Asp) single nucleotide variant not provided [RCV000494618] Chr3:48467025 [GRCh38]
Chr3:48508424 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000626116]|Aicardi-Goutieres syndrome 1 [RCV000764509]|Aicardi-Goutieres syndrome 1 [RCV001219467]|not provided [RCV000656254] Chr3:48466873 [GRCh38]
Chr3:48508272 [GRCh37]
Chr3:3p21.31		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000644053]|Inborn genetic diseases [RCV004965630] Chr3:48467242 [GRCh38]
Chr3:48508641 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000558683]|not specified [RCV003403301] Chr3:48467186 [GRCh38]
Chr3:48508585 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002528907] Chr3:48467484 [GRCh38]
Chr3:48508883 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000644052]|TREX1-related disorder [RCV004527704] Chr3:48467037 [GRCh38]
Chr3:48508436 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.484C>T (p.Leu162=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001407792] Chr3:48467139 [GRCh38]
Chr3:48508538 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000698766]|not specified [RCV004586889] Chr3:48467524 [GRCh38]
Chr3:48508923 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31(chr3:48441331-48516124)x1 copy number loss not provided [RCV000682256] Chr3:48441331..48516124 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001039343]|TREX1-related disorder [RCV004733016]|not provided [RCV000713868]|not specified [RCV001700451] Chr3:48467334 [GRCh38]
Chr3:48508733 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000793452]|TREX1-related disorder [RCV004733017]|not provided [RCV000713870]|not specified [RCV004526760] Chr3:48467394 [GRCh38]
Chr3:48508793 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002532223] Chr3:48466993 [GRCh38]
Chr3:48508392 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000691299]|Aicardi-Goutieres syndrome 1 [RCV002282329]|Aicardi-Goutieres syndrome 1 [RCV002485645]|TREX1-related disorder [RCV004535720]|not provided [RCV001726303] Chr3:48467278 [GRCh38]
Chr3:48508677 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.-26-110G>A single nucleotide variant not provided [RCV000713866] Chr3:48466520 [GRCh38]
Chr3:48507919 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001084349]|not provided [RCV000713869]|not specified [RCV003323699] Chr3:48467375 [GRCh38]
Chr3:48508774 [GRCh37]
Chr3:3p21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002533485] Chr3:48467345 [GRCh38]
Chr3:48508744 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_033629.6(TREX1):c.581del (p.Ser194fs) deletion Aicardi-Goutieres syndrome 1 [RCV000754080] Chr3:48467236 [GRCh38]
Chr3:48508635 [GRCh37]
Chr3:3p21.31		 pathogenic
GRCh37/hg19 3p21.31(chr3:48505831-48641197)x1 copy number loss not provided [RCV000742395] Chr3:48505831..48641197 [GRCh37]
Chr3:3p21.31		 benign
NM_007248.3(TREX1):c.1033_1050del deletion Aicardi-Goutieres syndrome 1 [RCV000853385] Chr3:48467718..48467735 [GRCh38]
Chr3:48509117..48509134 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000761485] Chr3:48467163 [GRCh38]
Chr3:48508562 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.32T>G (p.Met11Arg) single nucleotide variant not provided [RCV000762113] Chr3:48466687 [GRCh38]
Chr3:48508086 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001246998]|Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [RCV002282361]|TREX1-related disorder [RCV004535893]|Vascular dementia [RCV002051725]|not provided [RCV000762114]|not specified [RCV004689877] Chr3:48467569 [GRCh38]
Chr3:48508968 [GRCh37]
Chr3:3p21.31		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele single nucleotide variant not provided [RCV000993351] Chr3:3p21.31 pathogenic
NM_033629.6(TREX1):c.429C>T (p.Leu143=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000951190]|TREX1-related disorder [RCV004543569] Chr3:48467084 [GRCh38]
Chr3:48508483 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.339G>A (p.Arg113=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000945539]|TREX1-related disorder [RCV004543539] Chr3:48466994 [GRCh38]
Chr3:48508393 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.894C>T (p.Thr298=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000882360] Chr3:48467549 [GRCh38]
Chr3:48508948 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.627G>A (p.Gln209=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000970587] Chr3:48467282 [GRCh38]
Chr3:48508681 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.535C>T (p.Leu179=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003768903] Chr3:48467190 [GRCh38]
Chr3:48508589 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.474G>A (p.Ala158=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002541023] Chr3:48467129 [GRCh38]
Chr3:48508528 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.416del (p.Ala139fs) deletion Aicardi-Goutieres syndrome 1 [RCV001045764]|Aicardi-Goutieres syndrome 1 [RCV002282434]|not provided [RCV001567593] Chr3:48467071 [GRCh38]
Chr3:48508470 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.24G>A (p.Pro8=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001047254]|Inborn genetic diseases [RCV004963029] Chr3:48466679 [GRCh38]
Chr3:48508078 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.247G>A (p.Glu83Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001051073]|Inborn genetic diseases [RCV004031585] Chr3:48466902 [GRCh38]
Chr3:48508301 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.236_243del (p.Pro79fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV001054687] Chr3:48466882..48466889 [GRCh38]
Chr3:48508281..48508288 [GRCh37]
Chr3:3p21.31		 pathogenic
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_033629.6(TREX1):c.127G>T (p.Ala43Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001068389] Chr3:48466782 [GRCh38]
Chr3:48508181 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.757C>G (p.His253Asp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001069745] Chr3:48467412 [GRCh38]
Chr3:48508811 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001036420] Chr3:48467451 [GRCh38]
Chr3:48508850 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.-26-1G>A single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000779411]|TREX1-related disorder [RCV000785138]|not provided [RCV003320742]|not specified [RCV003330948] Chr3:48466629 [GRCh38]
Chr3:48508028 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|benign|uncertain significance
NM_033629.6(TREX1):c.635del (p.Pro212fs) deletion Aicardi-Goutieres syndrome 1 [RCV003768447]|TREX1-related disorder [RCV000779412] Chr3:48467289 [GRCh38]
Chr3:48508688 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.843C>T (p.Ala281=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000953473] Chr3:48467498 [GRCh38]
Chr3:48508897 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.27G>T (p.Gly9=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002065721] Chr3:48466682 [GRCh38]
Chr3:48508081 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.933A>G (p.Thr311=) single nucleotide variant not provided [RCV000909710] Chr3:48467588 [GRCh38]
Chr3:48508987 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000806591] Chr3:48466906 [GRCh38]
Chr3:48508305 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000801550]|Aicardi-Goutieres syndrome 1 [RCV002495072] Chr3:48466905 [GRCh38]
Chr3:48508304 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001145697]|Aicardi-Goutieres syndrome 1 [RCV001222016]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001145696]|not provided [RCV000998068] Chr3:48467001 [GRCh38]
Chr3:48508400 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.387C>T (p.Tyr129=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001414858]|not provided [RCV000893035] Chr3:48467042 [GRCh38]
Chr3:48508441 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000808229] Chr3:48467295 [GRCh38]
Chr3:48508694 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.554G>A (p.Arg185His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001150035]|Aicardi-Goutieres syndrome 1 [RCV002032387]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001150036] Chr3:48467209 [GRCh38]
Chr3:48508608 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.473C>T (p.Ala158Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001148457]|Aicardi-Goutieres syndrome 1 [RCV001246935]|Inborn genetic diseases [RCV004963153]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001148458]|not provided [RCV001759906] Chr3:48467128 [GRCh38]
Chr3:48508527 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000824226]|not provided [RCV003489918] Chr3:48467439 [GRCh38]
Chr3:48508838 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000820186] Chr3:48467389 [GRCh38]
Chr3:48508788 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.846A>G (p.Leu282=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001145806]|Aicardi-Goutieres syndrome 1 [RCV001403819]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001145807] Chr3:48467501 [GRCh38]
Chr3:48508900 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.651G>A (p.Arg217=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000915247]|Aicardi-Goutieres syndrome 1 [RCV001143910]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001143911] Chr3:48467306 [GRCh38]
Chr3:48508705 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000987264]|See cases [RCV002252278]|not provided [RCV001759678] Chr3:48466837 [GRCh38]
Chr3:48508236 [GRCh37]
Chr3:3p21.31		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001007852]|Aicardi-Goutieres syndrome 1 [RCV001231973]|not provided [RCV001759687] Chr3:48467043 [GRCh38]
Chr3:48508442 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1 copy number loss not provided [RCV001005432] Chr3:48346677..49630228 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.908C>T (p.Thr303Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001202980] Chr3:48467563 [GRCh38]
Chr3:48508962 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001225702] Chr3:48467512 [GRCh38]
Chr3:48508911 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.23dup (p.Pro10fs) duplication Aicardi-Goutieres syndrome 1 [RCV001225792]|Aicardi-Goutieres syndrome 1 [RCV001291770]|Aicardi-Goutieres syndrome 1 [RCV005029789]|Chilblain lupus 1 [RCV001291771]|TREX1-related disorder [RCV004733189]|not provided [RCV002462846] Chr3:48466673..48466674 [GRCh38]
Chr3:48508072..48508073 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.212T>C (p.Val71Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001205203] Chr3:48466867 [GRCh38]
Chr3:48508266 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.916G>A (p.Gly306Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001210409] Chr3:48467571 [GRCh38]
Chr3:48508970 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.728C>G (p.Pro243Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001241853]|Inborn genetic diseases [RCV004034694]|not provided [RCV001773546] Chr3:48467383 [GRCh38]
Chr3:48508782 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.806del (p.Gly269fs) deletion not provided [RCV000998069] Chr3:48467458 [GRCh38]
Chr3:48508857 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001150037]|Aicardi-Goutieres syndrome 1 [RCV001858981]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001150038] Chr3:48467304 [GRCh38]
Chr3:48508703 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_033629.6(TREX1):c.-27+4A>G single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV004788417] Chr3:48466313 [GRCh38]
Chr3:48507712 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.427_429dup (p.Leu143_Thr144insLeu) duplication not provided [RCV001547617] Chr3:48467080..48467081 [GRCh38]
Chr3:48508479..48508480 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.12:g.48465783A>G single nucleotide variant not provided [RCV001552845] Chr3:48465783 [GRCh38]
Chr3:48507182 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.720G>A (p.Arg240=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002077133]|not provided [RCV001703332]|not specified [RCV001699671] Chr3:48467375 [GRCh38]
Chr3:48508774 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_033629.6(TREX1):c.21C>T (p.Pro7=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001504207] Chr3:48466676 [GRCh38]
Chr3:48508075 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.303T>C (p.Asp101=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001451213]|not provided [RCV004711431] Chr3:48466958 [GRCh38]
Chr3:48508357 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.142_144del (p.Pro48del) deletion Aicardi-Goutieres syndrome 1 [RCV001043538] Chr3:48466793..48466795 [GRCh38]
Chr3:48508192..48508194 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.197A>G (p.Lys66Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001230075]|Inborn genetic diseases [RCV002563178]|not provided [RCV001751447] Chr3:48466852 [GRCh38]
Chr3:48508251 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001239028] Chr3:48466728 [GRCh38]
Chr3:48508127 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001217178]|Inborn genetic diseases [RCV004034022] Chr3:48467118 [GRCh38]
Chr3:48508517 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001858775]|not provided [RCV000993350] Chr3:48466881 [GRCh38]
Chr3:48508280 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.144del (p.Thr49fs) deletion Aicardi-Goutieres syndrome 1 [RCV001866193]|not provided [RCV001593823] Chr3:48466793 [GRCh38]
Chr3:48508192 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.514G>A (p.Gly172Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003106648] Chr3:48467169 [GRCh38]
Chr3:48508568 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.243_246del (p.Ser82fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV001169857] Chr3:48466894..48466897 [GRCh38]
Chr3:48508293..48508296 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.184C>T (p.Arg62Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001069845]|Inborn genetic diseases [RCV002554590] Chr3:48466839 [GRCh38]
Chr3:48508238 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV001041750]|Aicardi-Goutieres syndrome 1 [RCV001644908]|Aicardi-Goutieres syndrome 1 [RCV002489572]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV003128257]|TREX1-related disorder [RCV004528350]|not provided [RCV004720048] Chr3:48466881..48466882 [GRCh38]
Chr3:48508280..48508281 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.191T>C (p.Val64Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001048363] Chr3:48466846 [GRCh38]
Chr3:48508245 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.817C>G (p.Leu273Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001055523]|TREX1-related disorder [RCV004733133]|not provided [RCV004693531] Chr3:48467472 [GRCh38]
Chr3:48508871 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.-26-82_-26-81insG insertion Aicardi Goutieres syndrome 1 [RCV001528153] Chr3:48466548..48466549 [GRCh38]
Chr3:48507947..48507948 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.1A>G (p.Met1Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001863135]|Systemic lupus erythematosus [RCV001198990]|not provided [RCV001839030] Chr3:48466656 [GRCh38]
Chr3:48508055 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.284A>G (p.His95Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001230534] Chr3:48466939 [GRCh38]
Chr3:48508338 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.120C>T (p.His40=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002069613]|not provided [RCV001093074] Chr3:48466775 [GRCh38]
Chr3:48508174 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001234005]|Aicardi-Goutieres syndrome 1 [RCV002491755] Chr3:48467288 [GRCh38]
Chr3:48508687 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.935C>G (p.Pro312Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001068237] Chr3:48467590 [GRCh38]
Chr3:48508989 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.856_865dup (p.Ala289fs) duplication Systemic lupus erythematosus [RCV001197053] Chr3:48467509..48467510 [GRCh38]
Chr3:48508908..48508909 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.700G>T (p.Gly234Trp) single nucleotide variant not provided [RCV001090576] Chr3:48467355 [GRCh38]
Chr3:48508754 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.803G>C (p.Arg268Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001143912]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001143913] Chr3:48467458 [GRCh38]
Chr3:48508857 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.427C>G (p.Leu143Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001036067] Chr3:48467082 [GRCh38]
Chr3:48508481 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.767del (p.Thr256fs) deletion Aicardi-Goutieres syndrome 1 [RCV001313793] Chr3:48467422 [GRCh38]
Chr3:48508821 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.143_144del (p.Pro48fs) deletion Aicardi-Goutieres syndrome 1 [RCV001262861] Chr3:48466793..48466794 [GRCh38]
Chr3:48508192..48508193 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.26G>A (p.Gly9Glu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001314600] Chr3:48466681 [GRCh38]
Chr3:48508080 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001330235] Chr3:48466972 [GRCh38]
Chr3:48508371 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001307854]|Aicardi-Goutieres syndrome 1 [RCV003135949]|Inborn genetic diseases [RCV002543212] Chr3:48467247 [GRCh38]
Chr3:48508646 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.605T>G (p.Leu202Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001318310] Chr3:48467260 [GRCh38]
Chr3:48508659 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.491G>A (p.Arg164Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001343014]|TREX1-related disorder [RCV004733260] Chr3:48467146 [GRCh38]
Chr3:48508545 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.286G>A (p.Gly96Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001321088] Chr3:48466941 [GRCh38]
Chr3:48508340 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001319122]|Inborn genetic diseases [RCV004034954]|TREX1-related disorder [RCV004531108]|not specified [RCV003323855] Chr3:48466963 [GRCh38]
Chr3:48508362 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.434G>A (p.Ser145Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001351995] Chr3:48467089 [GRCh38]
Chr3:48508488 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.403C>G (p.Gln135Glu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001361220] Chr3:48467058 [GRCh38]
Chr3:48508457 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_48507870)_(50340407_?)del deletion Aicardi-Goutieres syndrome 1 [RCV001380369] Chr3:48507870..50340407 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.143C>T (p.Pro48Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001309567] Chr3:48466798 [GRCh38]
Chr3:48508197 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.497G>C (p.Ser166Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001340693] Chr3:48467152 [GRCh38]
Chr3:48508551 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.494C>A (p.Ala165Glu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001324749] Chr3:48467149 [GRCh38]
Chr3:48508548 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.95C>T (p.Thr32Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001317878]|not provided [RCV004793417]|not specified [RCV001824950] Chr3:48466750 [GRCh38]
Chr3:48508149 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.578A>G (p.Asp193Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001321266] Chr3:48467233 [GRCh38]
Chr3:48508632 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.860_868del (p.Leu287_Ala289del) deletion Aicardi-Goutieres syndrome 1 [RCV001339561] Chr3:48467514..48467522 [GRCh38]
Chr3:48508913..48508921 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.854A>T (p.Glu285Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001323768] Chr3:48467509 [GRCh38]
Chr3:48508908 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.417T>C (p.Ala139=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001422057] Chr3:48467072 [GRCh38]
Chr3:48508471 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.-26-52C>T single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001330931] Chr3:48466578 [GRCh38]
Chr3:48507977 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.500G>A (p.Ser167Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001313429] Chr3:48467155 [GRCh38]
Chr3:48508554 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.471T>G (p.Thr157=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001492378] Chr3:48467126 [GRCh38]
Chr3:48508525 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.477G>A (p.Leu159=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001420097]|not provided [RCV003438783] Chr3:48467132 [GRCh38]
Chr3:48508531 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.168A>T (p.Thr56=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001454673] Chr3:48466823 [GRCh38]
Chr3:48508222 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) duplication Aicardi-Goutieres syndrome 1 [RCV001381941]|Aicardi-Goutieres syndrome 1 [RCV002282536]|not provided [RCV004793476] Chr3:48466776..48466777 [GRCh38]
Chr3:48508175..48508176 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.501C>T (p.Ser167=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001407904] Chr3:48467156 [GRCh38]
Chr3:48508555 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.144C>G (p.Pro48=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001406077] Chr3:48466799 [GRCh38]
Chr3:48508198 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.81C>G (p.Ser27=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001489766] Chr3:48466736 [GRCh38]
Chr3:48508135 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.690G>A (p.Arg230=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001461942] Chr3:48467345 [GRCh38]
Chr3:48508744 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.504C>G (p.Pro168=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001516455] Chr3:48467159 [GRCh38]
Chr3:48508558 [GRCh37]
Chr3:3p21.31		 benign
NC_000003.12:g.48467792_48467796dup duplication not provided [RCV001684868] Chr3:48467790..48467791 [GRCh38]
Chr3:48509189..48509190 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.144C>A (p.Pro48=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001480518] Chr3:48466799 [GRCh38]
Chr3:48508198 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.144C>T (p.Pro48=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001497738] Chr3:48466799 [GRCh38]
Chr3:48508198 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001380882] Chr3:48467058 [GRCh38]
Chr3:48508457 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.678C>T (p.Phe226=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001453776] Chr3:48467333 [GRCh38]
Chr3:48508732 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.879G>C (p.Leu293=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001509928] Chr3:48467534 [GRCh38]
Chr3:48508933 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.393C>T (p.Phe131=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001417718] Chr3:48467048 [GRCh38]
Chr3:48508447 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.486G>A (p.Leu162=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001472371]|not provided [RCV001703098] Chr3:48467141 [GRCh38]
Chr3:48508540 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.125G>A (p.Cys42Tyr) single nucleotide variant not provided [RCV002248271] Chr3:48466780 [GRCh38]
Chr3:48508179 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.632G>A (p.Arg211Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003108865] Chr3:48467287 [GRCh38]
Chr3:48508686 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.137dup (p.Ser46fs) duplication Aicardi-Goutieres syndrome 1 [RCV002286847]|Chilblain lupus 1 [RCV001730099] Chr3:48466791..48466792 [GRCh38]
Chr3:48508190..48508191 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.19C>T (p.Pro7Ser) single nucleotide variant See cases [RCV002252648] Chr3:48466674 [GRCh38]
Chr3:48508073 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.467_469dup (p.Ile156_Thr157insIle) duplication Aicardi-Goutieres syndrome 1 [RCV001882841]|not provided [RCV001751854] Chr3:48467119..48467120 [GRCh38]
Chr3:48508518..48508519 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.553C>T (p.Arg185Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001869646]|not provided [RCV001816353]|not specified [RCV004526866] Chr3:48467208 [GRCh38]
Chr3:48508607 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) deletion Aicardi-Goutieres syndrome 1 [RCV001869598]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001809208] Chr3:48467275..48467276 [GRCh38]
Chr3:48508674..48508675 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.526A>G (p.Ser176Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001874071]|not provided [RCV002463047] Chr3:48467181 [GRCh38]
Chr3:48508580 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.383G>A (p.Arg128His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002045442]|not specified [RCV003388078] Chr3:48467038 [GRCh38]
Chr3:48508437 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.527G>T (p.Ser176Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002040044] Chr3:48467182 [GRCh38]
Chr3:48508581 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.858dup (p.Leu287fs) duplication Aicardi-Goutieres syndrome 1 [RCV001971387] Chr3:48467509..48467510 [GRCh38]
Chr3:48508908..48508909 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.913_916del (p.Tyr305fs) deletion Aicardi-Goutieres syndrome 1 [RCV002040314]|not specified [RCV004782857] Chr3:48467566..48467569 [GRCh38]
Chr3:48508965..48508968 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del) deletion Aicardi-Goutieres syndrome 1 [RCV001824110] Chr3:48466734..48466751 [GRCh38]
Chr3:48508133..48508150 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.268G>A (p.Ala90Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002007626] Chr3:48466923 [GRCh38]
Chr3:48508322 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.704T>G (p.Val235Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001895239] Chr3:48467359 [GRCh38]
Chr3:48508758 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.185G>A (p.Arg62His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001864038]|not specified [RCV004690150] Chr3:48466840 [GRCh38]
Chr3:48508239 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.83A>G (p.Gln28Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001967181] Chr3:48466738 [GRCh38]
Chr3:48508137 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.787A>G (p.Ser263Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002021931] Chr3:48467442 [GRCh38]
Chr3:48508841 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.337C>G (p.Arg113Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001947192] Chr3:48466992 [GRCh38]
Chr3:48508391 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.666C>G (p.His222Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001889377] Chr3:48467321 [GRCh38]
Chr3:48508720 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.43_45dup (p.Ile15_Phe16insIle) duplication Aicardi-Goutieres syndrome 1 [RCV001889816] Chr3:48466695..48466696 [GRCh38]
Chr3:48508094..48508095 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.8C>T (p.Ser3Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001893160]|Inborn genetic diseases [RCV004039177] Chr3:48466663 [GRCh38]
Chr3:48508062 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.300T>A (p.Phe100Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001890285] Chr3:48466955 [GRCh38]
Chr3:48508354 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.934C>G (p.Pro312Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002021249] Chr3:48467589 [GRCh38]
Chr3:48508988 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.491G>C (p.Arg164Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002042186]|Inborn genetic diseases [RCV002545690] Chr3:48467146 [GRCh38]
Chr3:48508545 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.394C>T (p.Pro132Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001947097] Chr3:48467049 [GRCh38]
Chr3:48508448 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.799dup (p.Ser267fs) duplication Aicardi-Goutieres syndrome 1 [RCV001965644] Chr3:48467453..48467454 [GRCh38]
Chr3:48508852..48508853 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.909_910del (p.Leu304fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV002022942] Chr3:48467561..48467562 [GRCh38]
Chr3:48508960..48508961 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.581C>T (p.Ser194Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001945120]|not provided [RCV002292677] Chr3:48467236 [GRCh38]
Chr3:48508635 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.61G>A (p.Ala21Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001928855] Chr3:48466716 [GRCh38]
Chr3:48508115 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.540C>T (p.Gly180=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001945681] Chr3:48467195 [GRCh38]
Chr3:48508594 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.152A>C (p.Gln51Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001966962] Chr3:48466807 [GRCh38]
Chr3:48508206 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.746C>T (p.Thr249Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001965261] Chr3:48467401 [GRCh38]
Chr3:48508800 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.509A>G (p.Glu170Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002003399] Chr3:48467164 [GRCh38]
Chr3:48508563 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.281C>T (p.Ala94Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001966813] Chr3:48466936 [GRCh38]
Chr3:48508335 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.112G>T (p.Ala38Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002021281] Chr3:48466767 [GRCh38]
Chr3:48508166 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001967116]|Aicardi-Goutieres syndrome 1 [RCV004785397] Chr3:48466861 [GRCh38]
Chr3:48508260 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.289C>A (p.Arg97Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001984255] Chr3:48466944 [GRCh38]
Chr3:48508343 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.91G>A (p.Val31Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002023436] Chr3:48466746 [GRCh38]
Chr3:48508145 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.5G>T (p.Gly2Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001889344]|Inborn genetic diseases [RCV004970408] Chr3:48466660 [GRCh38]
Chr3:48508059 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.80C>T (p.Ser27Phe) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001926564]|TREX1-related disorder [RCV004529053] Chr3:48466735 [GRCh38]
Chr3:48508134 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.830_833dup (p.Asp278fs) duplication Thrombotic microangiopathy [RCV001849584]|not provided [RCV004591591] Chr3:48467482..48467483 [GRCh38]
Chr3:48508881..48508882 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.430A>T (p.Thr144Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001910070] Chr3:48467085 [GRCh38]
Chr3:48508484 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.650G>A (p.Arg217Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002041257]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV004577010] Chr3:48467305 [GRCh38]
Chr3:48508704 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.419T>C (p.Met140Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001911199] Chr3:48467074 [GRCh38]
Chr3:48508473 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.374A>G (p.Asn125Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001891627] Chr3:48467029 [GRCh38]
Chr3:48508428 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.5del (p.Gly2fs) deletion Aicardi-Goutieres syndrome 1 [RCV001942306] Chr3:48466658 [GRCh38]
Chr3:48508057 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.182C>T (p.Pro61Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001944472] Chr3:48466837 [GRCh38]
Chr3:48508236 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.412C>G (p.Leu138Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001938747] Chr3:48467067 [GRCh38]
Chr3:48508466 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.35A>G (p.Gln12Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001884820] Chr3:48466690 [GRCh38]
Chr3:48508089 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs) duplication Aicardi-Goutieres syndrome 1 [RCV001944393] Chr3:48466949..48466950 [GRCh38]
Chr3:48508348..48508349 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.740C>T (p.Ala247Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001935775] Chr3:48467395 [GRCh38]
Chr3:48508794 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.127G>A (p.Ala43Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002020058] Chr3:48466782 [GRCh38]
Chr3:48508181 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.2T>C (p.Met1Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001962187] Chr3:48466657 [GRCh38]
Chr3:48508056 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.877C>G (p.Leu293Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002030266] Chr3:48467532 [GRCh38]
Chr3:48508931 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.139C>A (p.Pro47Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001956710] Chr3:48466794 [GRCh38]
Chr3:48508193 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.833A>T (p.Asp278Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002019029] Chr3:48467488 [GRCh38]
Chr3:48508887 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.520A>G (p.Arg174Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001870456] Chr3:48467175 [GRCh38]
Chr3:48508574 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001972795] Chr3:48467012 [GRCh38]
Chr3:48508411 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.627G>C (p.Gln209His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001937012] Chr3:48467282 [GRCh38]
Chr3:48508681 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.795_802dup (p.Arg268fs) duplication Aicardi-Goutieres syndrome 1 [RCV001954446] Chr3:48467449..48467450 [GRCh38]
Chr3:48508848..48508849 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.739G>A (p.Ala247Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001880384] Chr3:48467394 [GRCh38]
Chr3:48508793 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_48506866)_(48508999_?)dup duplication Aicardi-Goutieres syndrome 1 [RCV002012147] Chr3:48506866..48508999 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.399dup (p.Leu134fs) duplication Aicardi-Goutieres syndrome 1 [RCV001953552] Chr3:48467053..48467054 [GRCh38]
Chr3:48508452..48508453 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.647T>C (p.Leu216Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001952332] Chr3:48467302 [GRCh38]
Chr3:48508701 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.251T>G (p.Ile84Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002009746]|not provided [RCV004809717] Chr3:48466906 [GRCh38]
Chr3:48508305 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.393C>G (p.Phe131Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001867827] Chr3:48467048 [GRCh38]
Chr3:48508447 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.296G>A (p.Cys99Tyr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001994224] Chr3:48466951 [GRCh38]
Chr3:48508350 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.347C>T (p.Pro116Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002028999] Chr3:48467002 [GRCh38]
Chr3:48508401 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.607G>A (p.Ala203Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001955292] Chr3:48467262 [GRCh38]
Chr3:48508661 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.590C>T (p.Ala197Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001897707]|not provided [RCV005051923]|not specified [RCV003230707] Chr3:48467245 [GRCh38]
Chr3:48508644 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.182C>G (p.Pro61Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002028121] Chr3:48466837 [GRCh38]
Chr3:48508236 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.802del (p.Arg268fs) deletion Aicardi-Goutieres syndrome 1 [RCV001920318]|not provided [RCV004728932] Chr3:48467457 [GRCh38]
Chr3:48508856 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.55A>C (p.Met19Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002036152] Chr3:48466710 [GRCh38]
Chr3:48508109 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.608C>T (p.Ala203Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001901964] Chr3:48467263 [GRCh38]
Chr3:48508662 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.337C>T (p.Arg113Trp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001923430] Chr3:48466992 [GRCh38]
Chr3:48508391 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.719G>A (p.Arg240Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001899536] Chr3:48467374 [GRCh38]
Chr3:48508773 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.916G>T (p.Gly306Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001981384] Chr3:48467571 [GRCh38]
Chr3:48508970 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.586A>G (p.Thr196Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002046068] Chr3:48467241 [GRCh38]
Chr3:48508640 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.770C>T (p.Thr257Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001922947] Chr3:48467425 [GRCh38]
Chr3:48508824 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) deletion Aicardi-Goutieres syndrome 1 [RCV001952479] Chr3:48466806..48466819 [GRCh38]
Chr3:48508205..48508218 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.858_867delinsTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTAT (p.Leu287_Ala289delinsGlyCysSerArgGlnAlaPheArgHisHisGlnAlaHisValTrpGlyHisSerLeuCysTer) indel Aicardi-Goutieres syndrome 1 [RCV002051312] Chr3:48467513..48467522 [GRCh38]
Chr3:48508912..48508921 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.185G>T (p.Arg62Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002046314] Chr3:48466840 [GRCh38]
Chr3:48508239 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.588G>A (p.Thr196=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001875572] Chr3:48467243 [GRCh38]
Chr3:48508642 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.113C>T (p.Ala38Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002029169] Chr3:48466768 [GRCh38]
Chr3:48508167 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.277G>C (p.Ala93Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001957320] Chr3:48466932 [GRCh38]
Chr3:48508331 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.628T>C (p.Trp210Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001904485] Chr3:48467283 [GRCh38]
Chr3:48508682 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.470C>G (p.Thr157Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001998101] Chr3:48467125 [GRCh38]
Chr3:48508524 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.85C>T (p.Pro29Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001886097] Chr3:48466740 [GRCh38]
Chr3:48508139 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.694A>G (p.Met232Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002033916] Chr3:48467349 [GRCh38]
Chr3:48508748 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.459G>A (p.Val153=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001925814] Chr3:48467114 [GRCh38]
Chr3:48508513 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.29C>A (p.Pro10His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001957617] Chr3:48466684 [GRCh38]
Chr3:48508083 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.530A>G (p.Tyr177Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001931432] Chr3:48467185 [GRCh38]
Chr3:48508584 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.749C>T (p.Thr250Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002030854]|Inborn genetic diseases [RCV002548965]|not provided [RCV003138058] Chr3:48467404 [GRCh38]
Chr3:48508803 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.394C>A (p.Pro132Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002047232]|TREX1-related disorder [RCV004536371] Chr3:48467049 [GRCh38]
Chr3:48508448 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.782G>A (p.Ser261Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001936397] Chr3:48467437 [GRCh38]
Chr3:48508836 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.282G>A (p.Ala94=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002188359] Chr3:48466937 [GRCh38]
Chr3:48508336 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.814del (p.Asp272fs) deletion Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV002225175] Chr3:48467468 [GRCh38]
Chr3:48508867 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.798G>A (p.Glu266=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002125488] Chr3:48467453 [GRCh38]
Chr3:48508852 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.192A>C (p.Val64=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002206303] Chr3:48466847 [GRCh38]
Chr3:48508246 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.849C>T (p.Ser283=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002166073] Chr3:48467504 [GRCh38]
Chr3:48508903 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.168A>C (p.Thr56=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002108063] Chr3:48466823 [GRCh38]
Chr3:48508222 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.813G>A (p.Lys271=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002206991] Chr3:48467468 [GRCh38]
Chr3:48508867 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.555C>T (p.Arg185=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002125676] Chr3:48467210 [GRCh38]
Chr3:48508609 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.885C>T (p.Ala295=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002096182] Chr3:48467540 [GRCh38]
Chr3:48508939 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.138C>T (p.Ser46=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002188797] Chr3:48466793 [GRCh38]
Chr3:48508192 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.522G>A (p.Arg174=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002135011] Chr3:48467177 [GRCh38]
Chr3:48508576 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.321G>A (p.Leu107=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002173172] Chr3:48466976 [GRCh38]
Chr3:48508375 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.132G>C (p.Leu44=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002071747] Chr3:48466787 [GRCh38]
Chr3:48508186 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.632G>T (p.Arg211Ile) single nucleotide variant not provided [RCV002214288] Chr3:48467287 [GRCh38]
Chr3:48508686 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.543C>T (p.Ser181=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002130036] Chr3:48467198 [GRCh38]
Chr3:48508597 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.582G>A (p.Ser194=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002170119] Chr3:48467237 [GRCh38]
Chr3:48508636 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.594G>A (p.Glu198=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002156345] Chr3:48467249 [GRCh38]
Chr3:48508648 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.513C>T (p.His171=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002178857] Chr3:48467168 [GRCh38]
Chr3:48508567 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.360C>T (p.Cys120=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002083653] Chr3:48467015 [GRCh38]
Chr3:48508414 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.939G>A (p.Gly313=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002220177] Chr3:48467594 [GRCh38]
Chr3:48508993 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.828G>A (p.Val276=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002199607]|not provided [RCV003438926] Chr3:48467483 [GRCh38]
Chr3:48508882 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.294A>G (p.Gln98=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002081262] Chr3:48466949 [GRCh38]
Chr3:48508348 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.558G>A (p.Leu186=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002142602] Chr3:48467213 [GRCh38]
Chr3:48508612 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.30C>T (p.Pro10=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002176391] Chr3:48466685 [GRCh38]
Chr3:48508084 [GRCh37]
Chr3:3p21.31		 likely benign
NC_000003.11:g.(?_45435946)_(49137751_?)dup duplication Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003116297] Chr3:45435946..49137751 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.621C>G (p.Ile207Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003114975] Chr3:48467276 [GRCh38]
Chr3:48508675 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV003774745]|See cases [RCV002253147]|not provided [RCV003134404] Chr3:48466802..48466803 [GRCh38]
Chr3:48508201..48508202 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1 copy number loss not provided [RCV002279744] Chr3:44948482..49115809 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs) duplication Aicardi-Goutieres syndrome 1 [RCV003152792]|not provided [RCV002293090] Chr3:48467195..48467196 [GRCh38]
Chr3:48508594..48508595 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.803G>A (p.Arg268Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002296428] Chr3:48467458 [GRCh38]
Chr3:48508857 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.329C>G (p.Ala110Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002304922] Chr3:48466984 [GRCh38]
Chr3:48508383 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.817C>T (p.Leu273Phe) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002296043] Chr3:48467472 [GRCh38]
Chr3:48508871 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.752C>T (p.Thr251Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002301766] Chr3:48467407 [GRCh38]
Chr3:48508806 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.14C>A (p.Ala5Asp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002300171] Chr3:48466669 [GRCh38]
Chr3:48508068 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.184C>G (p.Arg62Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002300219] Chr3:48466839 [GRCh38]
Chr3:48508238 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.98A>T (p.Glu33Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002302113] Chr3:48466753 [GRCh38]
Chr3:48508152 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.805G>A (p.Gly269Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002298162]|Retinal dystrophy [RCV004817015] Chr3:48467460 [GRCh38]
Chr3:48508859 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.380A>T (p.Asp127Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002301665] Chr3:48467035 [GRCh38]
Chr3:48508434 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.780_781del (p.Pro262fs) deletion Aicardi-Goutieres syndrome 1 [RCV002815801] Chr3:48467435..48467436 [GRCh38]
Chr3:48508834..48508835 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.678C>G (p.Phe226Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003074450]|Inborn genetic diseases [RCV004070397] Chr3:48467333 [GRCh38]
Chr3:48508732 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_033629.6(TREX1):c.666C>A (p.His222Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003017496] Chr3:48467321 [GRCh38]
Chr3:48508720 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.733C>T (p.Pro245Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002907602] Chr3:48467388 [GRCh38]
Chr3:48508787 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.468C>G (p.Ile156Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002755273] Chr3:48467123 [GRCh38]
Chr3:48508522 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.51C>T (p.Phe17=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002908438] Chr3:48466706 [GRCh38]
Chr3:48508105 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.909A>G (p.Thr303=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002991462] Chr3:48467564 [GRCh38]
Chr3:48508963 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.910C>T (p.Leu304=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002947143] Chr3:48467565 [GRCh38]
Chr3:48508964 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.616A>G (p.Ser206Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003075686]|not provided [RCV003435867] Chr3:48467271 [GRCh38]
Chr3:48508670 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.172C>T (p.Pro58Ser) single nucleotide variant Inborn genetic diseases [RCV002729093] Chr3:48466827 [GRCh38]
Chr3:48508226 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.60G>A (p.Glu20=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003032518] Chr3:48466715 [GRCh38]
Chr3:48508114 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.271G>C (p.Val91Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003032749] Chr3:48466926 [GRCh38]
Chr3:48508325 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.410A>C (p.Glu137Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002842271] Chr3:48467065 [GRCh38]
Chr3:48508464 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.74C>T (p.Pro25Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003075662] Chr3:48466729 [GRCh38]
Chr3:48508128 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.96G>A (p.Thr32=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003075769]|not provided [RCV003435869] Chr3:48466751 [GRCh38]
Chr3:48508150 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.173C>T (p.Pro58Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003076316] Chr3:48466828 [GRCh38]
Chr3:48508227 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.617G>A (p.Ser206Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002592236] Chr3:48467272 [GRCh38]
Chr3:48508671 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.18dup (p.Pro7fs) duplication Aicardi-Goutieres syndrome 1 [RCV003055644] Chr3:48466672..48466673 [GRCh38]
Chr3:48508071..48508072 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.757C>T (p.His253Tyr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002909636] Chr3:48467412 [GRCh38]
Chr3:48508811 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.548A>G (p.Tyr183Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002824022] Chr3:48467203 [GRCh38]
Chr3:48508602 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.32T>C (p.Met11Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003037706] Chr3:48466687 [GRCh38]
Chr3:48508086 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.508G>A (p.Glu170Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002636356] Chr3:48467163 [GRCh38]
Chr3:48508562 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.474_475delinsCT (p.Ala158_Leu159=) indel Aicardi-Goutieres syndrome 1 [RCV002979743] Chr3:48467129..48467130 [GRCh38]
Chr3:48508528..48508529 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.788G>A (p.Ser263Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003002542]|Inborn genetic diseases [RCV004681595] Chr3:48467443 [GRCh38]
Chr3:48508842 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.726G>A (p.Lys242=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002952728] Chr3:48467381 [GRCh38]
Chr3:48508780 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.152A>G (p.Gln51Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003037840] Chr3:48466807 [GRCh38]
Chr3:48508206 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.55A>G (p.Met19Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002761239] Chr3:48466710 [GRCh38]
Chr3:48508109 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.263G>T (p.Ser88Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002619995] Chr3:48466918 [GRCh38]
Chr3:48508317 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.591T>C (p.Ala197=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002953252] Chr3:48467246 [GRCh38]
Chr3:48508645 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.40C>T (p.Leu14Phe) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003001908] Chr3:48466695 [GRCh38]
Chr3:48508094 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.246C>T (p.Ser82=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002982519] Chr3:48466901 [GRCh38]
Chr3:48508300 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.375T>C (p.Asn125=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002666705] Chr3:48467030 [GRCh38]
Chr3:48508429 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.126T>G (p.Cys42Trp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003056980] Chr3:48466781 [GRCh38]
Chr3:48508180 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.246C>A (p.Ser82Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002914540] Chr3:48466901 [GRCh38]
Chr3:48508300 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.405A>G (p.Gln135=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002574233] Chr3:48467060 [GRCh38]
Chr3:48508459 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.-11_2del (p.Met1fs) deletion Aicardi-Goutieres syndrome 1 [RCV002875958] Chr3:48466645..48466657 [GRCh38]
Chr3:48508044..48508056 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.758A>G (p.His253Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002850883] Chr3:48467413 [GRCh38]
Chr3:48508812 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.760C>T (p.Leu254=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002851464] Chr3:48467415 [GRCh38]
Chr3:48508814 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.260T>C (p.Leu87Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002958020] Chr3:48466915 [GRCh38]
Chr3:48508314 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.229T>C (p.Cys77Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003022864] Chr3:48466884 [GRCh38]
Chr3:48508283 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.369A>G (p.Ala123=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002625123] Chr3:48467024 [GRCh38]
Chr3:48508423 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.783T>C (p.Ser261=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002954207] Chr3:48467438 [GRCh38]
Chr3:48508837 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.258T>C (p.Gly86=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003005781] Chr3:48466913 [GRCh38]
Chr3:48508312 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.453C>G (p.Phe151Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003023036] Chr3:48467108 [GRCh38]
Chr3:48508507 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.513del (p.His171fs) deletion Aicardi-Goutieres syndrome 1 [RCV002667197] Chr3:48467168 [GRCh38]
Chr3:48508567 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.10C>A (p.Gln4Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002790226] Chr3:48466665 [GRCh38]
Chr3:48508064 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.615C>T (p.Leu205=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003022768] Chr3:48467270 [GRCh38]
Chr3:48508669 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.20C>G (p.Pro7Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002676321] Chr3:48466675 [GRCh38]
Chr3:48508074 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.187G>A (p.Val63Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003065161] Chr3:48466842 [GRCh38]
Chr3:48508241 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.735_737dup (p.Ser246_Ala247insSer) duplication Aicardi-Goutieres syndrome 1 [RCV003089687] Chr3:48467388..48467389 [GRCh38]
Chr3:48508787..48508788 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.917G>C (p.Gly306Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002651670] Chr3:48467572 [GRCh38]
Chr3:48508971 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.63C>T (p.Ala21=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002833518] Chr3:48466718 [GRCh38]
Chr3:48508117 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.88A>G (p.Lys30Glu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002671534] Chr3:48466743 [GRCh38]
Chr3:48508142 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.224A>G (p.Lys75Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002895542] Chr3:48466879 [GRCh38]
Chr3:48508278 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.806G>A (p.Gly269Asp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002938206] Chr3:48467461 [GRCh38]
Chr3:48508860 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.334C>T (p.Leu112=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002628498] Chr3:48466989 [GRCh38]
Chr3:48508388 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.345G>T (p.Gln115His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002900526] Chr3:48467000 [GRCh38]
Chr3:48508399 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.880C>T (p.Leu294=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002746042] Chr3:48467535 [GRCh38]
Chr3:48508934 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.22C>G (p.Pro8Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002650698] Chr3:48466677 [GRCh38]
Chr3:48508076 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.446G>C (p.Gly149Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002962809] Chr3:48467101 [GRCh38]
Chr3:48508500 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.478A>C (p.Lys160Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003090851] Chr3:48467133 [GRCh38]
Chr3:48508532 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.815A>C (p.Asp272Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003028811] Chr3:48467470 [GRCh38]
Chr3:48508869 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.892A>T (p.Thr298Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003045914] Chr3:48467547 [GRCh38]
Chr3:48508946 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.895T>G (p.Leu299Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003044324] Chr3:48467550 [GRCh38]
Chr3:48508949 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.277G>A (p.Ala93Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002628434] Chr3:48466932 [GRCh38]
Chr3:48508331 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.685A>G (p.Ile229Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002647103] Chr3:48467340 [GRCh38]
Chr3:48508739 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.287G>C (p.Gly96Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003063587] Chr3:48466942 [GRCh38]
Chr3:48508341 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.70T>C (p.Leu24=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002943222] Chr3:48466725 [GRCh38]
Chr3:48508124 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.289C>T (p.Arg97Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003067766] Chr3:48466944 [GRCh38]
Chr3:48508343 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.242C>T (p.Ala81Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003067788] Chr3:48466897 [GRCh38]
Chr3:48508296 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.209G>C (p.Cys70Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003093138] Chr3:48466864 [GRCh38]
Chr3:48508263 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.318C>T (p.Asn106=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003049946] Chr3:48466973 [GRCh38]
Chr3:48508372 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.45C>G (p.Ile15Met) single nucleotide variant not provided [RCV003129565] Chr3:48466700 [GRCh38]
Chr3:48508099 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.469A>G (p.Thr157Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002653090] Chr3:48467124 [GRCh38]
Chr3:48508523 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.676T>C (p.Phe226Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002814509] Chr3:48467331 [GRCh38]
Chr3:48508730 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003228864] Chr3:48467116 [GRCh38]
Chr3:48508515 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.599_602dup (p.Leu202fs) duplication not provided [RCV003132946] Chr3:48467253..48467254 [GRCh38]
Chr3:48508652..48508653 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.898_899dup (p.Val301fs) duplication not provided [RCV003142763] Chr3:48467552..48467553 [GRCh38]
Chr3:48508951..48508952 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.638A>G (p.Gln213Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003778810]|Inborn genetic diseases [RCV004963569]|not provided [RCV003142764] Chr3:48467293 [GRCh38]
Chr3:48508692 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.354C>T (p.Pro118=) single nucleotide variant not provided [RCV003142765] Chr3:48467009 [GRCh38]
Chr3:48508408 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.446G>T (p.Gly149Val) single nucleotide variant not provided [RCV003142766] Chr3:48467101 [GRCh38]
Chr3:48508500 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003327334] Chr3:48467209 [GRCh38]
Chr3:48508608 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.633A>G (p.Arg211=) single nucleotide variant not specified [RCV003331950] Chr3:48467288 [GRCh38]
Chr3:48508687 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.-11C>T single nucleotide variant TREX1-related disorder [RCV004536644] Chr3:48466645 [GRCh38]
Chr3:48508044 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.82del (p.Gln28fs) deletion Neurodevelopmental disorder [RCV003389160] Chr3:48466735 [GRCh38]
Chr3:48508134 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003448553] Chr3:48466996 [GRCh38]
Chr3:48508395 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.84G>C (p.Gln28His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003778426]|not provided [RCV003437826] Chr3:48466739 [GRCh38]
Chr3:48508138 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.856G>A (p.Gly286Arg) single nucleotide variant not provided [RCV003433572] Chr3:48467511 [GRCh38]
Chr3:48508910 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.-26-96G>A single nucleotide variant TREX1-related disorder [RCV004531762] Chr3:48466534 [GRCh38]
Chr3:48507933 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.940del (p.Glu314fs) deletion Retinal dystrophy [RCV003389581] Chr3:48467592 [GRCh38]
Chr3:48508991 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.760C>A (p.Leu254Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003805194] Chr3:48467415 [GRCh38]
Chr3:48508814 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.425G>C (p.Gly142Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003797803] Chr3:48467080 [GRCh38]
Chr3:48508479 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.284A>C (p.His95Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003797245] Chr3:48466939 [GRCh38]
Chr3:48508338 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.471T>C (p.Thr157=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003790774] Chr3:48467126 [GRCh38]
Chr3:48508525 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.306C>T (p.Asp102=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003805290] Chr3:48466961 [GRCh38]
Chr3:48508360 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.295T>C (p.Cys99Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003794063] Chr3:48466950 [GRCh38]
Chr3:48508349 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.871C>T (p.Leu291=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003797486] Chr3:48467526 [GRCh38]
Chr3:48508925 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.75C>G (p.Pro25=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003806643] Chr3:48466730 [GRCh38]
Chr3:48508129 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.503C>T (p.Pro168Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003779408] Chr3:48467158 [GRCh38]
Chr3:48508557 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.366_367del (p.Ala123fs) deletion Aicardi-Goutieres syndrome 1 [RCV003807097] Chr3:48467021..48467022 [GRCh38]
Chr3:48508420..48508421 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.649C>A (p.Arg217=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003807784] Chr3:48467304 [GRCh38]
Chr3:48508703 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.574C>T (p.Pro192Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003807975] Chr3:48467229 [GRCh38]
Chr3:48508628 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.440T>C (p.Leu147Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003805929] Chr3:48467095 [GRCh38]
Chr3:48508494 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.465C>T (p.Ser155=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793202] Chr3:48467120 [GRCh38]
Chr3:48508519 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.915T>C (p.Tyr305=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003806124] Chr3:48467570 [GRCh38]
Chr3:48508969 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.205_206del (p.Leu69fs) deletion Aicardi-Goutieres syndrome 1 [RCV003807754] Chr3:48466860..48466861 [GRCh38]
Chr3:48508259..48508260 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.371_381del (p.His124fs) deletion Aicardi-Goutieres syndrome 1 [RCV003807761] Chr3:48467024..48467034 [GRCh38]
Chr3:48508423..48508433 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.642C>G (p.Ala214=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003790630] Chr3:48467297 [GRCh38]
Chr3:48508696 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.705C>T (p.Val235=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003794604] Chr3:48467360 [GRCh38]
Chr3:48508759 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.703del (p.Val235fs) deletion Aicardi-Goutieres syndrome 1 [RCV003806168]|Aicardi-Goutieres syndrome 1 [RCV005038521] Chr3:48467355 [GRCh38]
Chr3:48508754 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.302A>G (p.Asp101Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003805892] Chr3:48466957 [GRCh38]
Chr3:48508356 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.259C>G (p.Leu87Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003792187] Chr3:48466914 [GRCh38]
Chr3:48508313 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.495A>G (p.Ala165=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003794341] Chr3:48467150 [GRCh38]
Chr3:48508549 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.830A>G (p.Lys277Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003795681] Chr3:48467485 [GRCh38]
Chr3:48508884 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.806G>T (p.Gly269Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003788340] Chr3:48467461 [GRCh38]
Chr3:48508860 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.930C>A (p.Ala310=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003804666] Chr3:48467585 [GRCh38]
Chr3:48508984 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.247G>C (p.Glu83Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793221] Chr3:48466902 [GRCh38]
Chr3:48508301 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.600T>C (p.Asp200=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003783035] Chr3:48467255 [GRCh38]
Chr3:48508654 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.72G>A (p.Leu24=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003790004] Chr3:48466727 [GRCh38]
Chr3:48508126 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.194A>G (p.Asp65Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793392] Chr3:48466849 [GRCh38]
Chr3:48508248 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter) duplication Aicardi-Goutieres syndrome 1 [RCV003791867]|Aicardi-Goutieres syndrome 1 [RCV005038520] Chr3:48466948..48466949 [GRCh38]
Chr3:48508347..48508348 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.6C>T (p.Gly2=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793514] Chr3:48466661 [GRCh38]
Chr3:48508060 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.664C>A (p.His222Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003796012] Chr3:48467319 [GRCh38]
Chr3:48508718 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs) duplication Aicardi-Goutieres syndrome 1 [RCV003806216] Chr3:48466729..48466730 [GRCh38]
Chr3:48508128..48508129 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.815A>T (p.Asp272Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003790564] Chr3:48467470 [GRCh38]
Chr3:48508869 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.466A>G (p.Ile156Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003782600] Chr3:48467121 [GRCh38]
Chr3:48508520 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.666C>T (p.His222=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003804882] Chr3:48467321 [GRCh38]
Chr3:48508720 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.873G>A (p.Leu291=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003788036] Chr3:48467528 [GRCh38]
Chr3:48508927 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.69C>T (p.Gly23=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003795192] Chr3:48466724 [GRCh38]
Chr3:48508123 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.139C>T (p.Pro47Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003786135] Chr3:48466794 [GRCh38]
Chr3:48508193 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.662C>T (p.Ala221Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003796085] Chr3:48467317 [GRCh38]
Chr3:48508716 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.921A>G (p.Leu307=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003794262] Chr3:48467576 [GRCh38]
Chr3:48508975 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.448G>A (p.Ala150Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003779483] Chr3:48467103 [GRCh38]
Chr3:48508502 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.450C>G (p.Ala150=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003784135] Chr3:48467105 [GRCh38]
Chr3:48508504 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.918A>G (p.Gly306=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003806811] Chr3:48467573 [GRCh38]
Chr3:48508972 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.781A>G (p.Ser261Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003792196] Chr3:48467436 [GRCh38]
Chr3:48508835 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.400C>A (p.Leu134Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003805140] Chr3:48467055 [GRCh38]
Chr3:48508454 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.505T>C (p.Ser169Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003794460] Chr3:48467160 [GRCh38]
Chr3:48508559 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.873G>C (p.Leu291=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003806477] Chr3:48467528 [GRCh38]
Chr3:48508927 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.589G>A (p.Ala197Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003804081] Chr3:48467244 [GRCh38]
Chr3:48508643 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs) duplication Aicardi-Goutieres syndrome 1 [RCV003787660] Chr3:48466878..48466879 [GRCh38]
Chr3:48508277..48508278 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.213G>A (p.Val71=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003804746] Chr3:48466868 [GRCh38]
Chr3:48508267 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.623G>A (p.Cys208Tyr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003791018] Chr3:48467278 [GRCh38]
Chr3:48508677 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.491G>T (p.Arg164Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003792123] Chr3:48467146 [GRCh38]
Chr3:48508545 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.889C>T (p.Leu297=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793268] Chr3:48467544 [GRCh38]
Chr3:48508943 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.15C>T (p.Ala5=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793746] Chr3:48466670 [GRCh38]
Chr3:48508069 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.391T>A (p.Phe131Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003791140] Chr3:48467046 [GRCh38]
Chr3:48508445 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer) indel Aicardi-Goutieres syndrome 1 [RCV003791181] Chr3:48467177..48467178 [GRCh38]
Chr3:48508576..48508577 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.56T>C (p.Met19Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003791385] Chr3:48466711 [GRCh38]
Chr3:48508110 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.165C>T (p.Pro55=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003787466] Chr3:48466820 [GRCh38]
Chr3:48508219 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.130del (p.Leu44fs) deletion Aicardi-Goutieres syndrome 1 [RCV003782646] Chr3:48466783 [GRCh38]
Chr3:48508182 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.314C>T (p.Ala105Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003788729] Chr3:48466969 [GRCh38]
Chr3:48508368 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.21C>A (p.Pro7=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003789415] Chr3:48466676 [GRCh38]
Chr3:48508075 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.521G>A (p.Arg174Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003786638] Chr3:48467176 [GRCh38]
Chr3:48508575 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.140C>A (p.Pro47His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003798866] Chr3:48466795 [GRCh38]
Chr3:48508194 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.645G>A (p.Leu215=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003799983] Chr3:48467300 [GRCh38]
Chr3:48508699 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.142C>T (p.Pro48Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003799223] Chr3:48466797 [GRCh38]
Chr3:48508196 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.531_548del (p.Ser178_Tyr183del) deletion Aicardi-Goutieres syndrome 1 [RCV003799330] Chr3:48467183..48467200 [GRCh38]
Chr3:48508582..48508599 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.216T>A (p.Ala72=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003812886] Chr3:48466871 [GRCh38]
Chr3:48508270 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.207G>T (p.Leu69=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003812977] Chr3:48466862 [GRCh38]
Chr3:48508261 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.787A>C (p.Ser263Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003800752] Chr3:48467442 [GRCh38]
Chr3:48508841 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.102G>A (p.Leu34=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003800732] Chr3:48466757 [GRCh38]
Chr3:48508156 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.902dup (p.Ala302fs) duplication Aicardi-Goutieres syndrome 1 [RCV003815484] Chr3:48467556..48467557 [GRCh38]
Chr3:48508955..48508956 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.294A>C (p.Gln98His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003808619] Chr3:48466949 [GRCh38]
Chr3:48508348 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.769A>G (p.Thr257Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003809173] Chr3:48467424 [GRCh38]
Chr3:48508823 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801901]|Retinal dystrophy [RCV004818417] Chr3:48466833 [GRCh38]
Chr3:48508232 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.324C>T (p.Leu108=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003808738] Chr3:48466979 [GRCh38]
Chr3:48508378 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801502] Chr3:48467220 [GRCh38]
Chr3:48508619 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.54C>T (p.Asp18=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003799844] Chr3:48466709 [GRCh38]
Chr3:48508108 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.786C>T (p.Pro262=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003809081] Chr3:48467441 [GRCh38]
Chr3:48508840 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.663T>A (p.Ala221=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801011] Chr3:48467318 [GRCh38]
Chr3:48508717 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.753T>G (p.Thr251=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801583] Chr3:48467408 [GRCh38]
Chr3:48508807 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.30C>G (p.Pro10=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801696] Chr3:48466685 [GRCh38]
Chr3:48508084 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.298T>C (p.Phe100Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003813371] Chr3:48466953 [GRCh38]
Chr3:48508352 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.519A>G (p.Pro173=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003800479] Chr3:48467174 [GRCh38]
Chr3:48508573 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.735A>T (p.Pro245=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003808907] Chr3:48467390 [GRCh38]
Chr3:48508789 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.502C>T (p.Pro168Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003812267] Chr3:48467157 [GRCh38]
Chr3:48508556 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.18G>C (p.Leu6=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003813587] Chr3:48466673 [GRCh38]
Chr3:48508072 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.495A>C (p.Ala165=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003817693] Chr3:48467150 [GRCh38]
Chr3:48508549 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.558G>C (p.Leu186=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801440] Chr3:48467213 [GRCh38]
Chr3:48508612 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.391T>C (p.Phe131Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003798931] Chr3:48467046 [GRCh38]
Chr3:48508445 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.55dup (p.Met19fs) duplication Aicardi-Goutieres syndrome 1 [RCV003800676] Chr3:48466709..48466710 [GRCh38]
Chr3:48508108..48508109 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.710_711insG (p.Ser238fs) insertion Aicardi-Goutieres syndrome 1 [RCV003812640] Chr3:48467365..48467366 [GRCh38]
Chr3:48508764..48508765 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.382_390del (p.Arg128_Asp130del) deletion Aicardi-Goutieres syndrome 1 [RCV003800405] Chr3:48467034..48467042 [GRCh38]
Chr3:48508433..48508441 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.143C>G (p.Pro48Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003798939] Chr3:48466798 [GRCh38]
Chr3:48508197 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003799082] Chr3:48467004 [GRCh38]
Chr3:48508403 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.141_151del (p.Pro48fs) deletion Aicardi-Goutieres syndrome 1 [RCV003815341] Chr3:48466795..48466805 [GRCh38]
Chr3:48508194..48508204 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.69dup (p.Pro25fs) duplication Aicardi-Goutieres syndrome 1 [RCV003803990] Chr3:48466723..48466724 [GRCh38]
Chr3:48508122..48508123 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.670A>C (p.Arg224=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003802030] Chr3:48467325 [GRCh38]
Chr3:48508724 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.408A>G (p.Ala136=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003803406] Chr3:48467063 [GRCh38]
Chr3:48508462 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.378T>C (p.Gly126=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003802249] Chr3:48467033 [GRCh38]
Chr3:48508432 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.655G>T (p.Val219Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003803144] Chr3:48467310 [GRCh38]
Chr3:48508709 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.663T>G (p.Ala221=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003802029] Chr3:48467318 [GRCh38]
Chr3:48508717 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.901G>A (p.Val301Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003803297] Chr3:48467556 [GRCh38]
Chr3:48508955 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.524_526dup (p.Lys175_Ser176insLys) duplication Aicardi-Goutieres syndrome 1 [RCV003803110] Chr3:48467176..48467177 [GRCh38]
Chr3:48508575..48508576 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.736T>C (p.Ser246Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003803830] Chr3:48467391 [GRCh38]
Chr3:48508790 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.249G>A (p.Glu83=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003802530] Chr3:48466904 [GRCh38]
Chr3:48508303 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.518C>T (p.Pro173Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003802792] Chr3:48467173 [GRCh38]
Chr3:48508572 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.50T>C (p.Phe17Ser) single nucleotide variant TREX1-related disorder [RCV004531789]|not specified [RCV004587584] Chr3:48466705 [GRCh38]
Chr3:48508104 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.12:g.48467727A>G single nucleotide variant TREX1-related disorder [RCV004532081] Chr3:48467727 [GRCh38]
Chr3:48509126 [GRCh37]
Chr3:3p21.31		 likely benign
NC_000003.12:g.48467729T>C single nucleotide variant TREX1-related disorder [RCV004545544] Chr3:48467729 [GRCh38]
Chr3:48509128 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.-26-95G>T single nucleotide variant TREX1-related disorder [RCV004537080] Chr3:48466535 [GRCh38]
Chr3:48507934 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.-26-57C>T single nucleotide variant TREX1-related disorder [RCV004534633] Chr3:48466573 [GRCh38]
Chr3:48507972 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.266C>T (p.Thr89Ile) single nucleotide variant Inborn genetic diseases [RCV004473550] Chr3:48466921 [GRCh38]
Chr3:48508320 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.131T>A (p.Leu44Gln) single nucleotide variant Inborn genetic diseases [RCV004473547] Chr3:48466786 [GRCh38]
Chr3:48508185 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.164C>T (p.Pro55Leu) single nucleotide variant Inborn genetic diseases [RCV004473548] Chr3:48466819 [GRCh38]
Chr3:48508218 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_47894522)_(49060605_?)del deletion not provided [RCV004582341] Chr3:47894522..49060605 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_48488250)_(48508999_?)dup duplication not provided [RCV004582342] Chr3:48488250..48508999 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.780T>C (p.Thr260=) single nucleotide variant not provided [RCV004811434] Chr3:48467435 [GRCh38]
Chr3:48508834 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.850dup (p.Arg284fs) duplication Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV004788418] Chr3:48467504..48467505 [GRCh38]
Chr3:48508903..48508904 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.371A>G (p.His124Arg) single nucleotide variant not provided [RCV004795212] Chr3:48467026 [GRCh38]
Chr3:48508425 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.558_573dup (p.Pro192fs) duplication Chilblain lupus 1 [RCV004767683] Chr3:48467209..48467210 [GRCh38]
Chr3:48508608..48508609 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.635C>T (p.Pro212Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV004789993] Chr3:48467290 [GRCh38]
Chr3:48508689 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.774del (p.Asn259fs) deletion TREX1-related disorder [RCV004733779] Chr3:48467428 [GRCh38]
Chr3:48508827 [GRCh37]
Chr3:3p21.31		 likely pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2751
Count of miRNA genes:552
Interacting mature miRNAs:638
Transcripts:ENST00000296443, ENST00000395677, ENST00000422277, ENST00000433541, ENST00000436480, ENST00000444177, ENST00000456089, ENST00000492235
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
597371074GWAS1467148_HIGFBP-3 measurement QTL GWAS1467148 (human)0.000006IGFBP-3 measurement34846617648466177Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
2316061GLUCO194_HGlucose level QTL 194 (human)0.02Glucose level32338077449380774Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human

Markers in Region
D3S3563  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera342,182,589 - 42,182,816RGD
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map3p21.31UniSTS
HuRef342,286,615 - 42,286,838UniSTS
Marshfield Genetic Map368.47UniSTS
Marshfield Genetic Map368.47RGD
Genethon Genetic Map362.7UniSTS
TREX1_1109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,508,348 - 48,509,195UniSTSGRCh37
Build 36348,483,352 - 48,484,199RGDNCBI36
Celera348,459,207 - 48,460,054RGD
HuRef348,562,378 - 48,563,225UniSTS
STS-Z41083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,506,987 - 48,507,040UniSTSGRCh37
Build 36348,481,991 - 48,482,044RGDNCBI36
Celera348,457,846 - 48,457,899RGD
Cytogenetic Map3p21.31UniSTS
HuRef348,561,017 - 48,561,070UniSTS
GeneMap99-GB4 RH Map3158.56UniSTS
WI-21042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,506,972 - 48,507,048UniSTSGRCh37
Build 36348,481,976 - 48,482,052RGDNCBI36
Celera348,457,831 - 48,457,907RGD
Cytogenetic Map3p21.31UniSTS
HuRef348,561,002 - 48,561,078UniSTS
GeneMap99-GB4 RH Map3157.44UniSTS
Whitehead-RH Map3196.7UniSTS
WI-11814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,508,893 - 48,509,019UniSTSGRCh37
Build 36348,483,897 - 48,484,023RGDNCBI36
Celera348,459,752 - 48,459,878RGD
Cytogenetic Map3p21.31UniSTS
HuRef348,562,923 - 48,563,049UniSTS
GeneMap99-GB4 RH Map3157.11UniSTS
Whitehead-RH Map3185.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2303 2786 2204 4601 1662 2062 2 579 1359 416 2007 6472 5838 1 3614 1 772 1596 1381 166 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_041782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC134772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF483777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ933154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA364183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA850044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W24304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000433541   ⟹   ENSP00000412404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,465,811 - 48,467,645 (+)Ensembl
Ensembl Acc Id: ENST00000444177   ⟹   ENSP00000415972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,465,946 - 48,467,643 (+)Ensembl
Ensembl Acc Id: ENST00000456089   ⟹   ENSP00000411331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,466,262 - 48,467,645 (+)Ensembl
Ensembl Acc Id: ENST00000492235   ⟹   ENSP00000494511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,466,252 - 48,467,643 (+)Ensembl
Ensembl Acc Id: ENST00000625293   ⟹   ENSP00000486676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,466,230 - 48,467,645 (+)Ensembl
Ensembl Acc Id: ENST00000635452   ⟹   ENSP00000492023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,466,257 - 48,467,644 (+)Ensembl
RefSeq Acc Id: NM_007248   ⟹   NP_009179
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,465,830 - 48,467,645 (+)NCBI
GRCh37348,506,919 - 48,509,044 (+)NCBI
HuRef348,560,949 - 48,563,074 (+)NCBI
CHM1_1348,459,219 - 48,461,344 (+)NCBI
T2T-CHM13v2.0348,493,835 - 48,495,650 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033629   ⟹   NP_338599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,466,230 - 48,467,645 (+)NCBI
GRCh37348,506,919 - 48,509,044 (+)NCBI
Build 36348,482,233 - 48,484,048 (+)NCBI Archive
HuRef348,560,949 - 48,563,074 (+)NCBI
CHM1_1348,459,219 - 48,461,344 (+)NCBI
T2T-CHM13v2.0348,494,235 - 48,495,650 (+)NCBI
Sequence:
RefSeq Acc Id: NP_338599   ⟸   NM_033629
- Peptide Label: isoform b
- UniProtKB: Q9BPW1 (UniProtKB/Swiss-Prot),   Q8TEU2 (UniProtKB/Swiss-Prot),   B2RCN9 (UniProtKB/Swiss-Prot),   Q9Y4X2 (UniProtKB/Swiss-Prot),   Q9NSU2 (UniProtKB/Swiss-Prot),   Q6IAN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_009179   ⟸   NM_007248
- Peptide Label: isoform c
- UniProtKB: Q5TZT0 (UniProtKB/TrEMBL),   Q6IAN5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000492023   ⟸   ENST00000635452
Ensembl Acc Id: ENSP00000494511   ⟸   ENST00000492235
Ensembl Acc Id: ENSP00000486676   ⟸   ENST00000625293
Ensembl Acc Id: ENSP00000411331   ⟸   ENST00000456089
Ensembl Acc Id: ENSP00000415972   ⟸   ENST00000444177
Ensembl Acc Id: ENSP00000412404   ⟸   ENST00000433541
Protein Domains
Exonuclease

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NSU2-F1-model_v2 AlphaFold Q9NSU2 1-314 view protein structure

Promoters
RGD ID:6864300
Promoter ID:EPDNEW_H5315
Type:initiation region
Name:TREX1_2
Description:three prime repair exonuclease 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5316  EPDNEW_H5317  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,465,830 - 48,465,890EPDNEW
RGD ID:6864302
Promoter ID:EPDNEW_H5316
Type:initiation region
Name:TREX1_1
Description:three prime repair exonuclease 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5315  EPDNEW_H5317  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,466,230 - 48,466,290EPDNEW
RGD ID:6864304
Promoter ID:EPDNEW_H5317
Type:initiation region
Name:TREX1_3
Description:three prime repair exonuclease 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5315  EPDNEW_H5316  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,466,666 - 48,466,726EPDNEW
RGD ID:6801827
Promoter ID:HG_KWN:44906
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000344699,   OTTHUMT00000344700,   OTTHUMT00000344701,   OTTHUMT00000344702,   OTTHUMT00000344703,   UC003CTJ.2,   UC010HJZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36348,480,256 - 48,482,712 (+)MPROMDB
RGD ID:6812440
Promoter ID:HG_ACW:53763
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid
Transcripts:TREX1.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36348,482,716 - 48,483,422 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12269 AgrOrtholog
COSMIC TREX1 COSMIC
Ensembl Genes ENSG00000213689 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000433541.1 UniProtKB/TrEMBL
  ENST00000444177 ENTREZGENE
  ENST00000444177.1 UniProtKB/Swiss-Prot
  ENST00000456089.1 UniProtKB/TrEMBL
  ENST00000492235.2 UniProtKB/TrEMBL
  ENST00000625293 ENTREZGENE
  ENST00000625293.3 UniProtKB/Swiss-Prot
  ENST00000635452.2 UniProtKB/TrEMBL
Gene3D-CATH 3.30.420.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000213689 GTEx
HGNC ID HGNC:12269 ENTREZGENE
Human Proteome Map TREX1 Human Proteome Map
InterPro Exonuclease_RNaseT/DNA_pol3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TREX1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11277 UniProtKB/Swiss-Prot
NCBI Gene 11277 ENTREZGENE
OMIM 606609 OMIM
PANTHER PTHR13058 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THREE-PRIME REPAIR EXONUCLEASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36949 PharmGKB
SMART EXOIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53098 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RCN9 ENTREZGENE
  C9J052_HUMAN UniProtKB/TrEMBL
  L8E8B0_HUMAN UniProtKB/TrEMBL
  Q5TZT0 ENTREZGENE, UniProtKB/TrEMBL
  Q6IAN5 ENTREZGENE, UniProtKB/TrEMBL
  Q8TEU2 ENTREZGENE
  Q9BPW1 ENTREZGENE
  Q9NSU2 ENTREZGENE
  Q9Y4X2 ENTREZGENE
  TREX1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A1W2PR12 UniProtKB/TrEMBL
  B2RCN9 UniProtKB/Swiss-Prot
  Q8TEU2 UniProtKB/Swiss-Prot
  Q9BPW1 UniProtKB/Swiss-Prot
  Q9Y4X2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 TREX1  three prime repair exonuclease 1  AGS1  Aicardi-Goutieres syndrome 1  Data merged from RGD:1348196 737654 PROVISIONAL