Variant: rs121434534

present in Gene: CYP19A1;MIR4713HG present in Chromosome: 15 Position on Chromosome: 51211017 Alleles of this Variant: G/A

rs121434534 in CYP19A1;MIR4713HG gene and Aromatase deficiency PMID 8530621 1995 Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.

PMID 24705274 2014 Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.

PMID 9211678 1997 Effect of testosterone and estradiol in a man with aromatase deficiency.

PMID 8265607 1993 Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.