Located on Chromosome 3, this mutation impacts NPHP3, NPHP3-ACAD11, NPHP3-AS1 (nephrocystin 3| NPHP3-ACAD11 readthrough (NMD candidate)| NPHP3 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Renal-hepatic-pancreatic dysplasia 1