D18N (p.Asp18Asn) variant of TREX1 (Three-prime repair exonuclease 1)
D18N (p.Asp18Asn) 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.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- rs121908117
- ClinGen CA116677
- ClinVar RCV000004405
- ClinVar RCV000114329
- Pathogenic
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio
- Missense
- ClinVar: Pathogenic (Retinal vasculopathy with cerebral leukoencephalopathy and syste)
- EBI: Pathogenic (in CHBL1 and AGS1)
- UniProt: Pathogenic (in CHBL1 and AGS1)
- Structural context available
- Cited in: Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. (PMID 16960810)
- Cited in: A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. (PMID 17440703)