The gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Mitochondrial neurogastrointestinal encephalomyopathy