This alteration occurs within gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency