This sequence change occurs on Chromosome 9, altering HSD17B3, SLC35D2-HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3| SLC35D2-HSD17B3 readthrough). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Testosterone 17-beta-dehydrogenase deficiency