rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.
|
25848017 |
2015 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
|
20871604 |
2010 |
rs121908117
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.
|
17293595 |
2007 |
rs121908117
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
|
17440703 |
2007 |
rs121908117
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.
|
23989343 |
2013 |
rs121908117
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
|
16845398 |
2006 |
rs121908117
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.
|
18045533 |
2007 |
rs121908117
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
|
22829693 |
2013 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
|
18805785 |
2008 |
rs121908117
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The TREX1 C-terminal region controls cellular localization through ubiquitination.
|
23979357 |
2013 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
rs121908117
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
|
17357087 |
2007 |
rs1416519719
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1553820434
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553820518
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A 44-year-old man with eye, kidney, and brain dysfunction.
|
26691497 |
2016 |
rs1553820518
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
|
17660820 |
2007 |
rs184953805
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs200773268
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing.
|
25138095 |
2014 |
rs200773268
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
|
24183309 |
2013 |
rs72556554
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
|
25604658 |
2015 |
rs72556554
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.
|
18045533 |
2007 |
rs72556554
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
|
17357087 |
2007 |