Variant: rs119481077 

    present in Gene: HSD17B3
    present in Chromosome: 9
    Position on Chromosome: 96254907
    Alleles of this Variant: G/A

rs119481077 in HSD17B3 gene and 17-Hydroxysteroid Dehydrogenase Deficiency PMID 9758445 1998 A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

PMID 19498320 2009 17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.

PMID 24025597 2013 Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

PMID 21214500 2011 Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis.

PMID 22212252 2011 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings.