HSD17B3 Chromosome 9
Hydroxysteroid 17-beta dehydrogenase 3
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What This Gene Does
This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
9q22.32
Ensembl
ENSG00000130948
Associated Conditions (13)
Testosterone 17-beta-dehydrogenase deficiency
See cases
HSD17B3-related disorder
Pseudohermaphroditism
Disorder of sexual differentiation
Differences in sex development
Inborn genetic diseases
Familial cancer of breast
Thyroid cancer
nonmedullary
1
Malignant tumor of esophagus
Ovarian cancer
Key Variants
RS1045653050
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS115684579
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS1313736012
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS139084702
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, See cases, HSD17B3-related disorder
Health Risk
RS139149152
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS139582148
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, HSD17B3-related disorder, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS142236065
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS188471808
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS2490091018
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS370307178
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS762619509
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS119481074
Likely pathogenic
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1045653050 | Health Risk | Conflicting classifications of pathogenicity | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS115684579 | Health Risk | Conflicting classifications of pathogenicity | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS1313736012 | Health Risk | Conflicting classifications of pathogenicity | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS139084702 | Health Risk | Conflicting classifications of pathogenicity | Testosterone 17-beta-dehydrogenase deficiency, See cases, HSD17B3-related disorder |
| RS139149152 | Health Risk | Conflicting classifications of pathogenicity | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS139582148 | Health Risk | Conflicting classifications of pathogenicity | Testosterone 17-beta-dehydrogenase deficiency, HSD17B3-related disorder, Testosterone 17-beta-dehydrogenase deficiency |
| RS142236065 | Health Risk | Conflicting classifications of pathogenicity | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS188471808 | Health Risk | Conflicting classifications of pathogenicity | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS2490091018 | Health Risk | Conflicting classifications of pathogenicity | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS370307178 | Health Risk | Conflicting classifications of pathogenicity | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS762619509 | Health Risk | Conflicting classifications of pathogenicity | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS119481074 | Health Risk | Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS119481078 | Health Risk | Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS1334033113 | Health Risk | Likely pathogenic | — |
| RS1354232643 | Health Risk | Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS1434833641 | Health Risk | Likely pathogenic | — |
| RS1440711824 | Health Risk | Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS1554694678 | Health Risk | Likely pathogenic | Pseudohermaphroditism, Pseudohermaphroditism |
| RS1827630265 | Health Risk | Likely pathogenic | — |
| RS2130805147 | Health Risk | Likely pathogenic | Disorder of sexual differentiation, Disorder of sexual differentiation |
| RS2490043463 | Health Risk | Likely pathogenic | — |
| RS2490077056 | Health Risk | Likely pathogenic | — |
| RS2490082729 | Health Risk | Likely pathogenic | — |
| RS2490090743 | Health Risk | Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS2490090849 | Health Risk | Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS2490210441 | Health Risk | Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS2490210569 | Health Risk | Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS773720185 | Health Risk | Likely pathogenic | Pseudohermaphroditism, Pseudohermaphroditism |
| RS1017003712 | Health Risk | Pathogenic | — |
| RS1165956033 | Health Risk | Pathogenic | — |
| RS119481075 | Health Risk | Pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Pseudohermaphroditism, Differences in sex development |
| RS119481076 | Health Risk | Pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Pseudohermaphroditism, Inborn genetic diseases |
| RS119481080 | Health Risk | Pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS1318050831 | Health Risk | Pathogenic | Disorder of sexual differentiation, Disorder of sexual differentiation |
| RS1378603446 | Health Risk | Pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS149607031 | Health Risk | Pathogenic | Pseudohermaphroditism, Inborn genetic diseases, Testosterone 17-beta-dehydrogenase deficiency |
| RS1554694264 | Health Risk | Pathogenic | Pseudohermaphroditism, Pseudohermaphroditism |
| RS1554705693 | Health Risk | Pathogenic | Pseudohermaphroditism, Pseudohermaphroditism |
| RS201115371 | Health Risk | Pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Pseudohermaphroditism, Inborn genetic diseases |
| RS2130704630 | Health Risk | Pathogenic | — |
| RS2490055114 | Health Risk | Pathogenic | — |
| RS2490063420 | Health Risk | Pathogenic | — |
| RS2490066358 | Health Risk | Pathogenic | — |
| RS2490085916 | Health Risk | Pathogenic | — |
| RS2490199594 | Health Risk | Pathogenic | — |
| RS2490210465 | Health Risk | Pathogenic | — |
| RS28939085 | Health Risk | Pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS730880305 | Health Risk | Pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS746001525 | Health Risk | Pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Differences in sex development, Testosterone 17-beta-dehydrogenase deficiency |
| RS747724352 | Health Risk | Pathogenic | Pseudohermaphroditism, Pseudohermaphroditism |