This variant affects gene GCDH, LOC117125594 (glutaryl-CoA dehydrogenase| H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; Glutaric aciduria, type 1