A mutation in LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency