Gene ANKH, LOC100130744, OTULIN (ANKH inorganic pyrophosphate transport regulator| uncharacterized LOC100130744| OTU deubiquitinase with linear linkage specificity), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Craniometaphyseal dysplasia, autosomal dominant