Located on Chromosome 3, this mutation impacts LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Von Hippel-Lindau syndrome