{
  "url": "https://dantelabs.com/hu/genes/coch",
  "gene": {
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    "symbol": "COCH",
    "name": "cochlin",
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    "location": "14q12",
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    "aliases": [
      "COCH-5B2"
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      "DFNA9"
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    "uniprot": [
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      "build": "GRCh37",
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      "strand": "+"
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      "genes": [
        {
          "symbol": "G2E3",
          "ensemblId": "ENSG00000092140",
          "biotype": "protein_coding",
          "start": 30559104,
          "end": 30620167,
          "strand": "+",
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        {
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          "biotype": "protein_coding",
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          "slug": "scfd1"
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        {
          "symbol": "STRN3",
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        {
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          "biotype": "protein_coding",
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        {
          "symbol": "HECTD1",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "hectd1"
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        {
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "heatr5a"
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        {
          "symbol": "",
          "ensemblId": "ENSG00000203546",
          "biotype": "protein_coding",
          "start": 31334312,
          "end": 31457441,
          "strand": "-"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Hearing Loss and Deafness",
        "diseases": [
          {
            "mondoId": "MONDO:0019587",
            "name": "Autosomal Dominant Nonsyndromic Hearing Loss",
            "genes": 39,
            "inheritance": "autosomal-dominant",
            "description": "Autosomal dominant form of nonsyndromic deafness.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019497",
            "name": "Nonsyndromic Genetic Hearing Loss",
            "genes": 97,
            "inheritance": null,
            "description": "Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.",
            "management": "Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-vestibular-function",
        "name": "Abnormal vestibular function",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-vestibular-function"
      },
      {
        "slug": "abnormal-vestibulocochlear-nerve-morphology",
        "name": "Abnormal vestibulocochlear nerve morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-vestibulocochlear-nerve-morphology"
      },
      {
        "slug": "cochlear-degeneration",
        "name": "Cochlear degeneration",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/cochlear-degeneration"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "postlingual-sensorineural-hearing-impairment",
        "name": "Postlingual sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/postlingual-sensorineural-hearing-impairment"
      },
      {
        "slug": "tinnitus",
        "name": "Ringing in ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/tinnitus"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/actg1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/atp2b2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cd164"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ceacam16"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "name": "collagen type XI alpha 1 chain",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/col11a1"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "name": "collagen type XI alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/col11a2"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "name": "diaphanous related formin 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/diaph1"
      },
      {
        "slug": "eya4",
        "symbol": "EYA4",
        "name": "EYA transcriptional coactivator and phosphatase 4",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/eya4"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/gjb2"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/gjb6"
      },
      {
        "slug": "greb1l",
        "symbol": "GREB1L",
        "name": "GREB1 like retinoic acid receptor coactivator",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/greb1l"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 6,
    "url": "https://dantelabs.com/genes/coch/variants",
    "items": [
      {
        "slug": "g87a",
        "name": "G87A",
        "commonName": null,
        "symbol": "COCH",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.260G>C",
        "position": 30878831,
        "grch37Position": 31348037,
        "part": {
          "kind": "exon",
          "number": 5
        },
        "url": "https://dantelabs.com/genes/coch/variants/g87a"
      },
      {
        "slug": "g87e",
        "name": "G87E",
        "commonName": null,
        "symbol": "COCH",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.260G>A",
        "position": 30878831,
        "grch37Position": 31348037,
        "part": {
          "kind": "exon",
          "number": 5
        },
        "url": "https://dantelabs.com/genes/coch/variants/g87e"
      },
      {
        "slug": "g87v",
        "name": "G87V",
        "commonName": null,
        "symbol": "COCH",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.260G>T",
        "position": 30878831,
        "grch37Position": 31348037,
        "part": {
          "kind": "exon",
          "number": 5
        },
        "url": "https://dantelabs.com/genes/coch/variants/g87v"
      },
      {
        "slug": "g87w",
        "name": "G87W",
        "commonName": null,
        "symbol": "COCH",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.259G>T",
        "position": 30878830,
        "grch37Position": 31348036,
        "part": {
          "kind": "exon",
          "number": 5
        },
        "url": "https://dantelabs.com/genes/coch/variants/g87w"
      },
      {
        "slug": "g88e",
        "name": "G88E",
        "commonName": null,
        "symbol": "COCH",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.263G>A",
        "position": 30878834,
        "grch37Position": 31348040,
        "part": {
          "kind": "exon",
          "number": 5
        },
        "url": "https://dantelabs.com/genes/coch/variants/g88e"
      },
      {
        "slug": "p51s",
        "name": "P51S",
        "commonName": null,
        "symbol": "COCH",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.151C>T",
        "position": 30877640,
        "grch37Position": 31346846,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/coch/variants/p51s"
      }
    ]
  }
}