Q51P (p.Gln51Pro) variant of TREX1 (Three-prime repair exonuclease 1)
Q51P (p.Gln51Pro) 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 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio. The record also includes published literature.
Q51P (p.Gln51Pro) variant details
- p.Gln51Pro
- rs2107256110
- ClinGen CA352617415
- ClinVar RCV001966962
- Ensembl rs2107256110
- Uncertain significance
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio
- Missense
- ClinVar: Uncertain significance (Retinal vasculopathy with cerebral leukoencephalopathy and syste)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)