A mutation found in GALT, LOC130001683 (galactose-1-phosphate uridylyltransferase| ATAC-STARR-seq lymphoblastoid active region 28314) 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