A43S (p.Ala43Ser) variant of TREX1 (Three-prime repair exonuclease 1)
A43S (p.Ala43Ser) 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.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- rs780414238
- ClinGen CA352617314
- ClinVar RCV001068389
- ExAC rs780414238
- 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)