This genomic variant is located on Chromosome 14, within the ENTPD5, COQ6 (ectonucleoside triphosphate diphosphohydrolase 5 (inactive)| coenzyme Q6, monooxygenase) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Familial steroid-resistant nephrotic syndrome with sensorineural deafness