{
  "url": "https://dantelabs.com/pl/genes/cldn14",
  "gene": {
    "slug": "cldn14",
    "symbol": "CLDN14",
    "name": "claudin 14",
    "hgnc": "HGNC:2035",
    "summary": null,
    "location": "21q22.13",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "DFNB29"
    ],
    "ensemblId": "ENSG00000159261",
    "entrezId": 23562,
    "omim": [
      "605608"
    ],
    "uniprot": [
      "O95500"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "21",
      "start": 36460621,
      "end": 36480122,
      "strand": "-",
      "ensemblTranscript": "ENST00000399135.6",
      "refseqTranscript": "NM_001146079.2",
      "ensemblProtein": "ENSP00000382087.1",
      "refseqProtein": "NP_001139551.1",
      "exons": [
        {
          "start": 36460621,
          "end": 36461776
        },
        {
          "start": 36479495,
          "end": 36480122
        }
      ],
      "cds": {
        "start": 36460976,
        "end": 36461695
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "21",
      "start": 37832919,
      "end": 37948867,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 35970372,
      "end": 36970371,
      "genes": [
        {
          "symbol": "RUNX1",
          "ensemblId": "ENSG00000159216",
          "biotype": "protein_coding",
          "start": 34787801,
          "end": 36004667,
          "strand": "-",
          "slug": "runx1"
        },
        {
          "symbol": "SETD4",
          "ensemblId": "ENSG00000185917",
          "biotype": "protein_coding",
          "start": 36034534,
          "end": 36079389,
          "strand": "-",
          "slug": "setd4"
        },
        {
          "symbol": "CBR1",
          "ensemblId": "ENSG00000159228",
          "biotype": "protein_coding",
          "start": 36069847,
          "end": 36073166,
          "strand": "+",
          "slug": "cbr1"
        },
        {
          "symbol": "CBR3",
          "ensemblId": "ENSG00000159231",
          "biotype": "protein_coding",
          "start": 36135042,
          "end": 36146569,
          "strand": "+",
          "slug": "cbr3"
        },
        {
          "symbol": "DOP1B",
          "ensemblId": "ENSG00000142197",
          "biotype": "protein_coding",
          "start": 36156758,
          "end": 36294275,
          "strand": "+",
          "slug": "dop1b"
        },
        {
          "symbol": "MORC3",
          "ensemblId": "ENSG00000159256",
          "biotype": "protein_coding",
          "start": 36320180,
          "end": 36386148,
          "strand": "+",
          "slug": "morc3"
        },
        {
          "symbol": "CHAF1B",
          "ensemblId": "ENSG00000159259",
          "biotype": "protein_coding",
          "start": 36385354,
          "end": 36419015,
          "strand": "+",
          "slug": "chaf1b"
        },
        {
          "symbol": "SIM2",
          "ensemblId": "ENSG00000159263",
          "biotype": "protein_coding",
          "start": 36699104,
          "end": 36751135,
          "strand": "+",
          "slug": "sim2"
        },
        {
          "symbol": "HLCS",
          "ensemblId": "ENSG00000159267",
          "biotype": "protein_coding",
          "start": 36748626,
          "end": 36990236,
          "strand": "-",
          "slug": "hlcs"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Utrata słuchu i głuchota",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Niezespołowa genetyczna utrata słuchu",
            "genes": 97,
            "inheritance": null,
            "description": "Dziedziczna utrata słuchu bez innych objawów medycznych, obejmująca częste recesywne postacie wywoływane przez GJB2, OTOF, SLC26A4, STRC i wiele innych genów, a także postacie dominujące, sprzężone z chromosomem X oraz mitochondrialne.",
            "management": "Znajomość genetycznej przyczyny może pomóc w wyborze wsparcia słuchowego i decyzji dotyczących implantu ślimakowego, kwalifikacji do badań terapii genowych (na przykład w przypadku OTOF) oraz poradnictwa rodzinnego.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/actg1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/aifm1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cabp2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cd164"
      },
      {
        "slug": "cdc14a",
        "symbol": "CDC14A",
        "name": "cell division cycle 14A",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cdc14a"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cdh23"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ceacam16"
      },
      {
        "slug": "cib2",
        "symbol": "CIB2",
        "name": "calcium and integrin binding family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cib2"
      },
      {
        "slug": "clrn2",
        "symbol": "CLRN2",
        "name": "clarin 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/clrn2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}