A variant affecting Chromosome X, within the gene HPRT1, LOC107032760, LOC129929047 (hypoxanthine phosphoribosyltransferase 1| origin of replication in promoter/intron 1 of HPRT1| ATAC-STARR-seq lymphoblastoid silent region 21009), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Lesch-Nyhan syndrome