D154A (p.Asp154Ala) variant of TREX1 (Three-prime repair exonuclease 1)
D154A (p.Asp154Ala) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aicardi-Goutieres syndrome 1. The record also includes published literature and structural context.
D154A (p.Asp154Ala) variant details
- p.Asp154Ala
- rs2530040403
- ClinGen CA352618157
- ClinVar RCV003228864
- Likely pathogenic
- Aicardi-Goutieres syndrome 1
- Missense
- ClinVar: Likely pathogenic (Aicardi-Goutieres syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)