This sequence change occurs on Chromosome 14, altering DYNC1H1, LOC130056502 (dynein cytoplasmic 1 heavy chain 1| ATAC-STARR-seq lymphoblastoid active region 9063). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Charcot-Marie-Tooth disease axonal type 2O