{
  "url": "https://dantelabs.com/da/genes/polr3h",
  "gene": {
    "slug": "polr3h",
    "symbol": "POLR3H",
    "name": "RNA polymerase III subunit H",
    "hgnc": "HGNC:30349",
    "summary": null,
    "location": "22q13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "RPC8",
      "KIAA1665",
      "C25"
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    "previousSymbols": [],
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    "entrezId": 171568,
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      "619801"
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    "uniprot": [
      "Q9Y535"
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      "chrom": "22",
      "start": 41525799,
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      "strand": "-",
      "ensemblTranscript": "ENST00000355209.9",
      "refseqTranscript": "NM_001018050.4",
      "ensemblProtein": "ENSP00000347345.4",
      "refseqProtein": "NP_001018060.1",
      "exons": [
        {
          "start": 41525799,
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        },
        {
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      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
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      "end": 41940610,
      "strand": "-"
    },
    "neighbourhood": {
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          "ensemblId": "ENSG00000100393",
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          "strand": "+",
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        },
        {
          "symbol": "L3MBTL2",
          "ensemblId": "ENSG00000100395",
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          "start": 41205282,
          "end": 41231623,
          "strand": "+",
          "slug": "l3mbtl2"
        },
        {
          "symbol": "CHADL",
          "ensemblId": "ENSG00000100399",
          "biotype": "protein_coding",
          "start": 41229256,
          "end": 41241000,
          "strand": "-",
          "slug": "chadl"
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        {
          "symbol": "RANGAP1",
          "ensemblId": "ENSG00000100401",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "rangap1"
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        {
          "symbol": "ZC3H7B",
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        {
          "symbol": "TEF",
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        {
          "symbol": "TOB2",
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        {
          "symbol": "ACO2",
          "ensemblId": "ENSG00000100412",
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        {
          "symbol": "PHF5A",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "CSDC2",
          "ensemblId": "ENSG00000172346",
          "biotype": "protein_coding",
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        {
          "symbol": "PMM1",
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        {
          "symbol": "DESI1",
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        {
          "symbol": "XRCC6",
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        {
          "symbol": "SNU13",
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        {
          "symbol": "MEI1",
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        {
          "symbol": "CCDC134",
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        {
          "symbol": "SREBF2",
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          "biotype": "protein_coding",
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        {
          "symbol": "SHISA8",
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          "biotype": "protein_coding",
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          "slug": "shisa8"
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        {
          "symbol": "TNFRSF13C",
          "ensemblId": "ENSG00000159958",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "tnfrsf13c"
        },
        {
          "symbol": "CENPM",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "cenpm"
        },
        {
          "symbol": "SMIM45",
          "ensemblId": "ENSG00000205704",
          "biotype": "protein_coding",
          "start": 41947178,
          "end": 41958942,
          "strand": "+",
          "slug": "smim45"
        },
        {
          "symbol": "SEPTIN3",
          "ensemblId": "ENSG00000100167",
          "biotype": "protein_coding",
          "start": 41969443,
          "end": 41998221,
          "strand": "+",
          "slug": "septin3"
        },
        {
          "symbol": "WBP2NL",
          "ensemblId": "ENSG00000183066",
          "biotype": "protein_coding",
          "start": 41998725,
          "end": 42058456,
          "strand": "+",
          "slug": "wbp2nl"
        },
        {
          "symbol": "NAGA",
          "ensemblId": "ENSG00000198951",
          "biotype": "protein_coding",
          "start": 42032595,
          "end": 42071198,
          "strand": "-",
          "slug": "naga"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-secondary-sexual-hair",
        "name": "Abnormality of secondary sexual hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-secondary-sexual-hair"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-breasts",
        "name": "Absent/small breasts",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-breasts"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-uterus",
        "name": "Absent/small uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-uterus"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "decreased-fertility",
        "name": "Decreased fertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility"
      },
      {
        "slug": "decreased-serum-estradiol",
        "name": "Decreased serum estradiol",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-serum-estradiol"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "premature-ovarian-insufficiency",
        "name": "Early menopause",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency"
      },
      {
        "slug": "gonadal-dysgenesis",
        "name": "Gonadal dysgenesis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gonadal-dysgenesis"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "increased-circulating-gonadotropin-level",
        "name": "Increased circulating gonadotropin level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis-of-vertebrae",
        "name": "Osteoporosis of vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoporosis-of-vertebrae"
      },
      {
        "slug": "secondary-amenorrhea",
        "name": "Previous menstrual periods stop",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/secondary-amenorrhea"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sparse-pubic-hair",
        "name": "Sparse pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-pubic-hair"
      },
      {
        "slug": "streak-ovary",
        "name": "Streak ovary",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/streak-ovary"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}