G9E (p.Gly9Glu) variant of TREX1 (Three-prime repair exonuclease 1)
G9E (p.Gly9Glu) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalop. The record also includes published literature and structural context.
G9E (p.Gly9Glu) variant details
- p.Gly9Glu
- rs2040321005
- ClinGen CA352616889
- ClinVar RCV001314600
- Ensembl rs2040321005
- Uncertain significance
- Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalop
- Missense
- ClinVar: Uncertain significance (Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)