{
  "url": "https://dantelabs.com/sv/genes/hsd17b3",
  "gene": {
    "slug": "hsd17b3",
    "symbol": "HSD17B3",
    "name": "hydroxysteroid 17-beta dehydrogenase 3",
    "hgnc": "HGNC:5212",
    "summary": null,
    "location": "9q22.32",
    "locusType": "gene with protein product",
    "aliases": [
      "SDR12C2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000130948",
    "entrezId": 3293,
    "omim": [
      "605573"
    ],
    "uniprot": [
      "P37058"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 96235306,
      "end": 96302176,
      "strand": "-",
      "ensemblTranscript": "ENST00000375263.8",
      "refseqTranscript": "NM_000197.2",
      "ensemblProtein": "ENSP00000364412.3",
      "refseqProtein": "NP_000188.1",
      "exons": [
        {
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          "end": 96235570
        },
        {
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        {
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        },
        {
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        },
        {
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        },
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        },
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        },
        {
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        },
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          "end": 96302176
        }
      ],
      "cds": {
        "start": 96235460,
        "end": 96302104
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 98997588,
      "end": 99064434,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 95768741,
      "end": 96768740,
      "genes": [
        {
          "symbol": "ERCC6L2",
          "ensemblId": "ENSG00000182150",
          "biotype": "protein_coding",
          "start": 95871264,
          "end": 96121154,
          "strand": "+",
          "slug": "ercc6l2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285269",
          "biotype": "protein_coding",
          "start": 96235331,
          "end": 96352058,
          "strand": "-"
        },
        {
          "symbol": "SLC35D2",
          "ensemblId": "ENSG00000130958",
          "biotype": "protein_coding",
          "start": 96312092,
          "end": 96383845,
          "strand": "-",
          "slug": "slc35d2"
        },
        {
          "symbol": "ZNF367",
          "ensemblId": "ENSG00000165244",
          "biotype": "protein_coding",
          "start": 96385838,
          "end": 96418470,
          "strand": "-",
          "slug": "znf367"
        },
        {
          "symbol": "HABP4",
          "ensemblId": "ENSG00000130956",
          "biotype": "protein_coding",
          "start": 96450098,
          "end": 96491336,
          "strand": "+",
          "slug": "habp4"
        },
        {
          "symbol": "CDC14B",
          "ensemblId": "ENSG00000081377",
          "biotype": "protein_coding",
          "start": 96490241,
          "end": 96619869,
          "strand": "-",
          "slug": "cdc14b"
        },
        {
          "symbol": "PRXL2C",
          "ensemblId": "ENSG00000158122",
          "biotype": "protein_coding",
          "start": 96639577,
          "end": 96655337,
          "strand": "-",
          "slug": "prxl2c"
        },
        {
          "symbol": "ZNF510",
          "ensemblId": "ENSG00000081386",
          "biotype": "protein_coding",
          "start": 96754553,
          "end": 96778129,
          "strand": "-",
          "slug": "znf510"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "46-xy-differences-of-sex-development",
        "name": "46,XY-variationer i könsutveckling och gonadal dysgenesi",
        "diseases": [
          {
            "mondoId": "MONDO:0020040",
            "name": "46,XY-variationer i könsutveckling",
            "genes": 14,
            "inheritance": null,
            "description": "Tillstånd hos personer med XY-kromosomer där utvecklingen av gonader eller könsorgan är avvikande, orsakade av varianter i gener som SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 och LHCGR.",
            "management": "En diagnos styr hormonbehandling, fertilitetsrådgivning och, när dysgenetiska gonader innehåller Y-material, bedömning av risken för gonadtumörer.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/46-xy-differences-of-sex-development"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "bifid-scrotum",
        "name": "Cleft of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-scrotum"
      },
      {
        "slug": "clitoral-hypertrophy",
        "name": "Enlarged clitoris",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/clitoral-hypertrophy"
      },
      {
        "slug": "gynecomastia",
        "name": "Enlarged male breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gynecomastia"
      },
      {
        "slug": "female-external-genitalia-in-individual-with-46-xy-karyotype",
        "name": "Female external genitalia in individual with 46,XY karyotype",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/female-external-genitalia-in-individual-with-46-xy-karyotype"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "increased-circulating-androstenedione-concentration",
        "name": "Increased circulating androstenedione concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-androstenedione-concentration"
      },
      {
        "slug": "infertility",
        "name": "Infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/infertility"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "male-pseudohermaphroditism",
        "name": "Male pseudohermaphroditism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/male-pseudohermaphroditism"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "urogenital-sinus-anomaly",
        "name": "Urogenital sinus anomaly",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urogenital-sinus-anomaly"
      }
    ],
    "related": [
      {
        "slug": "ar",
        "symbol": "AR",
        "name": "androgen receptor",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ar"
      },
      {
        "slug": "atrx",
        "symbol": "ATRX",
        "name": "ATRX chromatin remodeler",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atrx"
      },
      {
        "slug": "cyp11a1",
        "symbol": "CYP11A1",
        "name": "cytochrome P450 family 11 subfamily A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cyp11a1"
      },
      {
        "slug": "dhh",
        "symbol": "DHH",
        "name": "desert hedgehog signaling molecule",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dhh"
      },
      {
        "slug": "dmrt1",
        "symbol": "DMRT1",
        "name": "doublesex and mab-3 related transcription factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dmrt1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gata4"
      },
      {
        "slug": "hhat",
        "symbol": "HHAT",
        "name": "hedgehog acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/hhat"
      },
      {
        "slug": "map3k1",
        "symbol": "MAP3K1",
        "name": "mitogen-activated protein kinase kinase kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/map3k1"
      },
      {
        "slug": "nr5a1",
        "symbol": "NR5A1",
        "name": "nuclear receptor subfamily 5 group A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/nr5a1"
      },
      {
        "slug": "srd5a2",
        "symbol": "SRD5A2",
        "name": "steroid 5 alpha-reductase 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/srd5a2"
      },
      {
        "slug": "tspyl1",
        "symbol": "TSPYL1",
        "name": "TSPY like 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/tspyl1"
      },
      {
        "slug": "wt1",
        "symbol": "WT1",
        "name": "WT1 transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/wt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}