Q28H (p.Gln28His) variant of TREX1 (Three-prime repair exonuclease 1)
Q28H (p.Gln28His) 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 not provided; Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral l. The record also includes published literature and structural context.
Q28H (p.Gln28His) variant details
- p.Gln28His
- rs867996558
- ClinGen CA352617133
- ClinVar RCV003437826
- ClinVar RCV003778426
- Uncertain significance
- not provided; Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral l
- Missense
- ClinVar: Uncertain significance (not provided; Aicardi-Goutieres syndrome 1; Retinal vasculopathy)
- 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)