A mutation found in CYP1B1, LOC128772254 (cytochrome P450 family 1 subfamily B member 1| melanoma risk locus-associated MPRA allelic enhancer 2:38298139) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Anterior segment dysgenesis 6