{
  "url": "https://dantelabs.com/nl/genes/chrna4",
  "gene": {
    "slug": "chrna4",
    "symbol": "CHRNA4",
    "name": "cholinergic receptor nicotinic alpha 4 subunit",
    "hgnc": "HGNC:1958",
    "summary": null,
    "location": "20q13.33",
    "locusType": "gene with protein product",
    "aliases": [
      "BFNC"
    ],
    "previousSymbols": [
      "EBN",
      "EBN1"
    ],
    "ensemblId": "ENSG00000101204",
    "entrezId": 1137,
    "omim": [
      "118504"
    ],
    "uniprot": [
      "P43681"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 63343223,
      "end": 63361349,
      "strand": "-",
      "ensemblTranscript": "ENST00000370263.9",
      "refseqTranscript": "NM_000744.7",
      "ensemblProtein": "ENSP00000359285.4",
      "refseqProtein": "NP_000735.1",
      "exons": [
        {
          "start": 63343223,
          "end": 63346863
        },
        {
          "start": 63349653,
          "end": 63351027
        },
        {
          "start": 63355975,
          "end": 63356084
        },
        {
          "start": 63356371,
          "end": 63356415
        },
        {
          "start": 63359548,
          "end": 63359699
        },
        {
          "start": 63361090,
          "end": 63361349
        }
      ],
      "cds": {
        "start": 63346738,
        "end": 63361165
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 61975420,
      "end": 62009753,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 62852286,
      "end": 63852285,
      "genes": [
        {
          "symbol": "TCFL5",
          "ensemblId": "ENSG00000101190",
          "biotype": "protein_coding",
          "start": 62840997,
          "end": 62861840,
          "strand": "-",
          "slug": "tcfl5"
        },
        {
          "symbol": "DIDO1",
          "ensemblId": "ENSG00000101191",
          "biotype": "protein_coding",
          "start": 62877738,
          "end": 62937992,
          "strand": "-",
          "slug": "dido1"
        },
        {
          "symbol": "GID8",
          "ensemblId": "ENSG00000101193",
          "biotype": "protein_coding",
          "start": 62937060,
          "end": 62948589,
          "strand": "+",
          "slug": "gid8"
        },
        {
          "symbol": "SLC17A9",
          "ensemblId": "ENSG00000101194",
          "biotype": "protein_coding",
          "start": 62952645,
          "end": 62969588,
          "strand": "+",
          "slug": "slc17a9"
        },
        {
          "symbol": "BHLHE23",
          "ensemblId": "ENSG00000125533",
          "biotype": "protein_coding",
          "start": 63005927,
          "end": 63007035,
          "strand": "-",
          "slug": "bhlhe23"
        },
        {
          "symbol": "YTHDF1",
          "ensemblId": "ENSG00000149658",
          "biotype": "protein_coding",
          "start": 63195429,
          "end": 63216149,
          "strand": "-",
          "slug": "ythdf1"
        },
        {
          "symbol": "BIRC7",
          "ensemblId": "ENSG00000101197",
          "biotype": "protein_coding",
          "start": 63235435,
          "end": 63240497,
          "strand": "+",
          "slug": "birc7"
        },
        {
          "symbol": "NKAIN4",
          "ensemblId": "ENSG00000101198",
          "biotype": "protein_coding",
          "start": 63240784,
          "end": 63272694,
          "strand": "-",
          "slug": "nkain4"
        },
        {
          "symbol": "ARFGAP1",
          "ensemblId": "ENSG00000101199",
          "biotype": "protein_coding",
          "start": 63272785,
          "end": 63289791,
          "strand": "+",
          "slug": "arfgap1"
        },
        {
          "symbol": "COL20A1",
          "ensemblId": "ENSG00000101203",
          "biotype": "protein_coding",
          "start": 63293186,
          "end": 63334851,
          "strand": "+",
          "slug": "col20a1"
        },
        {
          "symbol": "KCNQ2",
          "ensemblId": "ENSG00000075043",
          "biotype": "protein_coding",
          "start": 63400208,
          "end": 63472689,
          "strand": "-",
          "slug": "kcnq2"
        },
        {
          "symbol": "EEF1A2",
          "ensemblId": "ENSG00000101210",
          "biotype": "protein_coding",
          "start": 63477488,
          "end": 63500533,
          "strand": "-",
          "slug": "eef1a2"
        },
        {
          "symbol": "PPDPF",
          "ensemblId": "ENSG00000125534",
          "biotype": "protein_coding",
          "start": 63520255,
          "end": 63532108,
          "strand": "+",
          "slug": "ppdpf"
        },
        {
          "symbol": "PTK6",
          "ensemblId": "ENSG00000101213",
          "biotype": "protein_coding",
          "start": 63526306,
          "end": 63537770,
          "strand": "-",
          "slug": "ptk6"
        },
        {
          "symbol": "SRMS",
          "ensemblId": "ENSG00000125508",
          "biotype": "protein_coding",
          "start": 63538489,
          "end": 63547752,
          "strand": "-",
          "slug": "srms"
        },
        {
          "symbol": "FNDC11",
          "ensemblId": "ENSG00000125531",
          "biotype": "protein_coding",
          "start": 63547891,
          "end": 63558138,
          "strand": "+",
          "slug": "fndc11"
        },
        {
          "symbol": "HELZ2",
          "ensemblId": "ENSG00000130589",
          "biotype": "protein_coding",
          "start": 63558086,
          "end": 63574239,
          "strand": "-",
          "slug": "helz2"
        },
        {
          "symbol": "GMEB2",
          "ensemblId": "ENSG00000101216",
          "biotype": "protein_coding",
          "start": 63587601,
          "end": 63628426,
          "strand": "-",
          "slug": "gmeb2"
        },
        {
          "symbol": "STMN3",
          "ensemblId": "ENSG00000197457",
          "biotype": "protein_coding",
          "start": 63639705,
          "end": 63657682,
          "strand": "-",
          "slug": "stmn3"
        },
        {
          "symbol": "RTEL1",
          "ensemblId": "ENSG00000258366",
          "biotype": "protein_coding",
          "start": 63657810,
          "end": 63696253,
          "strand": "+",
          "slug": "rtel1"
        },
        {
          "symbol": "RTEL1-TNFRSF6B",
          "ensemblId": "ENSG00000026036",
          "biotype": "protein_coding",
          "start": 63659300,
          "end": 63698684,
          "strand": "+",
          "slug": "rtel1-tnfrsf6b"
        },
        {
          "symbol": "TNFRSF6B",
          "ensemblId": "ENSG00000243509",
          "biotype": "protein_coding",
          "start": 63696368,
          "end": 63698689,
          "strand": "+",
          "slug": "tnfrsf6b"
        },
        {
          "symbol": "ARFRP1",
          "ensemblId": "ENSG00000101246",
          "biotype": "protein_coding",
          "start": 63698622,
          "end": 63708662,
          "strand": "-",
          "slug": "arfrp1"
        },
        {
          "symbol": "ZGPAT",
          "ensemblId": "ENSG00000197114",
          "biotype": "protein_coding",
          "start": 63707353,
          "end": 63736150,
          "strand": "+",
          "slug": "zgpat"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000273154",
          "biotype": "protein_coding",
          "start": 63708864,
          "end": 63739103,
          "strand": "+"
        },
        {
          "symbol": "LIME1",
          "ensemblId": "ENSG00000203896",
          "biotype": "protein_coding",
          "start": 63736283,
          "end": 63739108,
          "strand": "+",
          "slug": "lime1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000273047",
          "biotype": "protein_coding",
          "start": 63738270,
          "end": 63740398,
          "strand": "+"
        },
        {
          "symbol": "SLC2A4RG",
          "ensemblId": "ENSG00000125520",
          "biotype": "protein_coding",
          "start": 63739758,
          "end": 63744603,
          "strand": "+",
          "slug": "slc2a4rg"
        },
        {
          "symbol": "ZBTB46",
          "ensemblId": "ENSG00000130584",
          "biotype": "protein_coding",
          "start": 63743668,
          "end": 63832455,
          "strand": "-",
          "slug": "zbtb46"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epilepsy-report",
        "name": "Epilepsie (volledig panel)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Epilepsie",
            "genes": 171,
            "inheritance": null,
            "description": "Een hersenaandoening die wordt gekenmerkt door episodes van abnormaal verhoogde neuronale ontlading, die leiden tot tijdelijke episodes van sensorische of motorische neurologische stoornissen, of psychische stoornissen. Deze episodes kunnen al dan niet gepaard gaan met bewustzijnsverlies of convulsies.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/epilepsy-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "eeg-with-focal-spikes",
        "name": "EEG with focal spikes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eeg-with-focal-spikes"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "focal-hyperkinetic-seizure",
        "name": "Focal hyperkinetic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-hyperkinetic-seizure"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "increased-theta-frequency-activity-in-eeg",
        "name": "Increased theta frequency activity in EEG",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-theta-frequency-activity-in-eeg"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "interictal-epileptiform-activity",
        "name": "Interictal epileptiform activity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/interictal-epileptiform-activity"
      },
      {
        "slug": "involuntary-movements",
        "name": "Involuntary movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/involuntary-movements"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "nocturnal-seizures",
        "name": "Nocturnal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nocturnal-seizures"
      },
      {
        "slug": "nrem-parasomnia",
        "name": "NREM parasomnia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nrem-parasomnia"
      },
      {
        "slug": "paroxysmal-dystonia",
        "name": "Paroxysmal dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-dystonia"
      },
      {
        "slug": "psychotic-mentation",
        "name": "Psychotic mentation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/psychotic-mentation"
      },
      {
        "slug": "hyperventilation",
        "name": "Rapid breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperventilation"
      },
      {
        "slug": "motor-stereotypy",
        "name": "Repetitive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-stereotypy"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "sleep-walking",
        "name": "Sleep walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-walking"
      },
      {
        "slug": "suicidal-ideation",
        "name": "Suicidal ideation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/suicidal-ideation"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/aars1"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "name": "4-aminobutyrate aminotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/abat"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "name": "actin like 6B",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/actl6b"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "name": "ADAM metallopeptidase domain 22",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/adam22"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/aldh7a1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg13"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ap3b2"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atp1a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}