A mutation found in LOC130001683, GALT (ATAC-STARR-seq lymphoblastoid active region 28314| galactose-1-phosphate uridylyltransferase) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase