This sequence change occurs on Chromosome 9, altering GALT, LOC130001683 (galactose-1-phosphate uridylyltransferase| ATAC-STARR-seq lymphoblastoid active region 28314). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase