Variant: rs767259718 

    present in Gene: HSD17B3;HSD17B3-AS1
    present in Chromosome: 9
    Position on Chromosome: 96245424
    Alleles of this Variant: T/C;G

rs767259718 in HSD17B3;HSD17B3-AS1 gene and 17-Hydroxysteroid Dehydrogenase Deficiency PMID 8550739 1996 Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

PMID 11158067 2001 Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

PMID 9758445 1998 A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

PMID 8075637 1994 Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.

PMID 26545797 2016 Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.

PMID 9709959 1998 Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).