Gene LOC129936731, NDUFAF3 (ATAC-STARR-seq lymphoblastoid silent region 14351| NADH:ubiquinone oxidoreductase complex assembly factor 3) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 18