This sequence variant lies in LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase) on Chromosome 7. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis