Mutation context: Chromosome 3, Gene ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Aicardi-Goutieres syndrome 1