This sequence change occurs on Chromosome 10, altering ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency