D200N (p.Asp200Asn) variant of TREX1 (Three-prime repair exonuclease 1)
D200N (p.Asp200Asn) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio. The record also includes published literature and structural context.
D200N (p.Asp200Asn) variant details
- p.Asp200Asn
- rs78846775
- ClinGen CA116675
- ClinVar RCV000004402
- ClinVar RCV000114331
- Pathogenic
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio
- Missense
- ClinVar: Pathogenic (Retinal vasculopathy with cerebral leukoencephalopathy and syste)
- EBI: Pathogenic (in AGS1)
- UniProt: Pathogenic (in AGS1)
- Structural context available
- Cited in: Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. (PMID 17357087)
- Cited in: Clinical and molecular phenotype of Aicardi-Goutieres syndrome. (PMID 17846997)