This sequence change occurs on Chromosome 15, altering CYP19A1, MIR4713HG, PIRC66 (cytochrome P450 family 19 subfamily A member 1| MIR4713 host gene| piwi-interacting RNA cluster 66). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Aromatase deficiency