This sequence variant lies in GALT, LOC130001683 (galactose-1-phosphate uridylyltransferase| ATAC-STARR-seq lymphoblastoid active region 28314) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase