{
  "url": "https://dantelabs.com/es/genes/dicer1",
  "gene": {
    "slug": "dicer1",
    "symbol": "DICER1",
    "name": "dicer 1, ribonuclease III",
    "hgnc": "HGNC:17098",
    "summary": null,
    "location": "14q32.13",
    "locusType": "gene with protein product",
    "aliases": [
      "Dicer",
      "KIAA0928",
      "K12H4.8-LIKE",
      "HERNA"
    ],
    "previousSymbols": [
      "MNG1"
    ],
    "ensemblId": "ENSG00000100697",
    "entrezId": 23405,
    "omim": [
      "606241"
    ],
    "uniprot": [
      "Q9UPY3"
    ],
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      "release": "v1.5",
      "chrom": "14",
      "start": 95086228,
      "end": 95157529,
      "strand": "-",
      "ensemblTranscript": "ENST00000343455.8",
      "refseqTranscript": "NM_177438.3",
      "ensemblProtein": "ENSP00000343745.3",
      "refseqProtein": "NP_803187.1",
      "exons": [
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
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      "end": 95624347,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 94621879,
      "end": 95621878,
      "genes": [
        {
          "symbol": "",
          "ensemblId": "ENSG00000273259",
          "biotype": "protein_coding",
          "start": 94592058,
          "end": 94624646,
          "strand": "+"
        },
        {
          "symbol": "SERPINA3",
          "ensemblId": "ENSG00000196136",
          "biotype": "protein_coding",
          "start": 94598861,
          "end": 94627000,
          "strand": "+",
          "slug": "serpina3"
        },
        {
          "symbol": "GSC",
          "ensemblId": "ENSG00000133937",
          "biotype": "protein_coding",
          "start": 94766509,
          "end": 94770128,
          "strand": "-",
          "slug": "gsc"
        },
        {
          "symbol": "CLMN",
          "ensemblId": "ENSG00000165959",
          "biotype": "protein_coding",
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          "end": 95320058,
          "strand": "-",
          "slug": "clmn"
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        {
          "symbol": "SYNE3",
          "ensemblId": "ENSG00000176438",
          "biotype": "protein_coding",
          "start": 95407266,
          "end": 95516854,
          "strand": "-",
          "slug": "syne3"
        },
        {
          "symbol": "GLRX5",
          "ensemblId": "ENSG00000182512",
          "biotype": "protein_coding",
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          "end": 95544724,
          "strand": "+",
          "slug": "glrx5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "breast-lung-cancer",
        "name": "Cáncer de pulmón",
        "diseases": [
          {
            "mondoId": "MONDO:0008903",
            "name": "Cáncer de pulmón",
            "genes": 2,
            "inheritance": null,
            "description": "Neoplasia maligna que afecta al pulmón.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 8
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/breast-lung-cancer"
      },
      {
        "slug": "dicer1-tumour-predisposition",
        "name": "Predisposición a tumores por DICER1",
        "diseases": [
          {
            "mondoId": "MONDO:0100216",
            "name": "Predisposición a tumores relacionada con DICER1",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Variantes de DICER1 que causan blastoma pleuropulmonar, bocio multinodular, cáncer de tiroides, tumores de células de Sertoli-Leydig de ovario, nefroma quístico y otros tumores raros.",
            "management": "Las guías de vigilancia incluyen radiografía de tórax en la primera infancia, ecografía tiroidea y ecografía pélvica.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 8
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/dicer1-tumour-predisposition"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "alveolar-rhabdomyosarcoma",
        "name": "Alveolar rhabdomyosarcoma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/alveolar-rhabdomyosarcoma"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "basal-cell-carcinoma",
        "name": "Basal cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/basal-cell-carcinoma"
      },
      {
        "slug": "protuberant-abdomen",
        "name": "Belly sticks out",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/protuberant-abdomen"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "large-for-gestational-age",
        "name": "Birth weight > 90th percentile",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/large-for-gestational-age"
      },
      {
        "slug": "renal-cell-carcinoma",
        "name": "Cancer starting in small tubes in kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-cell-carcinoma"
      },
      {
        "slug": "cerebellar-medulloblastoma",
        "name": "Cerebellar medulloblastoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cerebellar-medulloblastoma"
      },
      {
        "slug": "colorectal-polyposis",
        "name": "Colorectal polyposis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/colorectal-polyposis"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "embryonal-rhabdomyosarcoma",
        "name": "Embryonal rhabdomyosarcoma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/embryonal-rhabdomyosarcoma"
      },
      {
        "slug": "enlarged-kidney",
        "name": "Enlarged kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enlarged-kidney"
      },
      {
        "slug": "goiter",
        "name": "Enlarged thyroid gland in neck",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/goiter"
      },
      {
        "slug": "euthyroid-multinodular-goiter",
        "name": "Euthyroid multinodular goiter",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/euthyroid-multinodular-goiter"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "overgrowth",
        "name": "General overgrowth",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/overgrowth"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "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": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "medulloblastoma",
        "name": "Medulloblastoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/medulloblastoma"
      },
      {
        "slug": "medulloepithelioma",
        "name": "Medulloepithelioma",
        "systems": [
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/medulloepithelioma"
      },
      {
        "slug": "multinodular-goiter",
        "name": "Multinodular goiter",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multinodular-goiter"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "nephroblastoma",
        "name": "Nephroblastoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephroblastoma"
      },
      {
        "slug": "ovarian-neoplasm",
        "name": "Ovarian cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ovarian-neoplasm"
      },
      {
        "slug": "ovarian-thecoma",
        "name": "Ovarian thecoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/ovarian-thecoma"
      },
      {
        "slug": "hyperthyroidism",
        "name": "Overactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/hyperthyroidism"
      },
      {
        "slug": "papillary-thyroid-carcinoma",
        "name": "Papillary thyroid carcinoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/papillary-thyroid-carcinoma"
      },
      {
        "slug": "pilomatrixoma",
        "name": "Pilomatrixoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pilomatrixoma"
      },
      {
        "slug": "preauricular-pit",
        "name": "Pit in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/preauricular-pit"
      },
      {
        "slug": "pleuropulmonary-blastoma",
        "name": "Pleuropulmonary blastoma",
        "systems": [
          "abnormality-of-the-respiratory-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pleuropulmonary-blastoma"
      },
      {
        "slug": "pulmonary-cyst",
        "name": "Pulmonary cyst",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-cyst"
      },
      {
        "slug": "rhabdomyosarcoma",
        "name": "Rhabdomyosarcoma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/rhabdomyosarcoma"
      },
      {
        "slug": "sertoli-cell-neoplasm",
        "name": "Sertoli cell neoplasm",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sertoli-cell-neoplasm"
      },
      {
        "slug": "sacral-dimple",
        "name": "Spinal dimple",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sacral-dimple"
      },
      {
        "slug": "testicular-seminoma",
        "name": "Testicular seminoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/testicular-seminoma"
      },
      {
        "slug": "thyroid-carcinoma",
        "name": "Thyroid carcinoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/thyroid-carcinoma"
      },
      {
        "slug": "thyroid-nodule",
        "name": "Thyroid nodule",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/thyroid-nodule"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "wide-anterior-fontanel",
        "name": "Wider-than-typical soft spot of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-anterior-fontanel"
      }
    ],
    "related": [
      {
        "slug": "egfr",
        "symbol": "EGFR",
        "name": "epidermal growth factor receptor",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/egfr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 40,
    "url": "https://dantelabs.com/genes/dicer1/variants",
    "items": [
      {
        "slug": "c-734plus3a-t",
        "name": "c.734+3A>T",
        "commonName": null,
        "symbol": "DICER1",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 95129469,
        "grch37Position": 95595806,
        "part": {
          "kind": "intron",
          "number": 6
        },
        "url": "https://dantelabs.com/genes/dicer1/variants/c-734plus3a-t"
      },
      {
        "slug": "c-1509plus16a-g",
        "name": "c.1509+16A>G",
        "commonName": null,
        "symbol": "DICER1",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 95117606,
        "grch37Position": 95583943,
        "part": {
          "kind": "intron",
          "number": 9
        },
        "url": "https://dantelabs.com/genes/dicer1/variants/c-1509plus16a-g"
      },
      {
        "slug": "c-1752plus213a-g",
        "name": "c.1752+213A>G",
        "commonName": null,
        "symbol": "DICER1",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 95116240,
        "grch37Position": 95582577,
        "part": {
          "kind": "intron",
          "number": 10
        },
        "url": "https://dantelabs.com/genes/dicer1/variants/c-1752plus213a-g"
      },
      {
        "slug": "c-1753-9a-g",
        "name": "c.1753-9A>G",
        "commonName": null,
        "symbol": "DICER1",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 95115830,
        "grch37Position": 95582167,
        "part": {
          "kind": "intron",
          "number": 10
        },
        "url": "https://dantelabs.com/genes/dicer1/variants/c-1753-9a-g"
      },
      {
        "slug": "c-1907plus1g-a",
        "name": "c.1907+1G>A",
        "commonName": null,
        "symbol": "DICER1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 95115666,
        "grch37Position": 95582003,
        "part": {
          "kind": "intron",
          "number": 11
        },
        "url": "https://dantelabs.com/genes/dicer1/variants/c-1907plus1g-a"
      },
      {
        "slug": "c-1908-3c-g",
        "name": "c.1908-3C>G",
        "commonName": null,
        "symbol": "DICER1",
        "classification": "likely-pathogenic",
        "stars": 3,
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