{
  "url": "https://dantelabs.com/ko/genes/scn10a",
  "gene": {
    "slug": "scn10a",
    "symbol": "SCN10A",
    "name": "sodium voltage-gated channel alpha subunit 10",
    "hgnc": "HGNC:10582",
    "summary": null,
    "location": "3p22.2",
    "locusType": "gene with protein product",
    "aliases": [
      "Nav1.8",
      "hPN3",
      "SNS",
      "PN3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000185313",
    "entrezId": 6336,
    "omim": [
      "604427"
    ],
    "uniprot": [
      "Q9Y5Y9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 38696807,
      "end": 38816217,
      "strand": "-",
      "ensemblTranscript": "ENST00000449082.3",
      "refseqTranscript": "NM_006514.4",
      "ensemblProtein": "ENSP00000390600.2",
      "refseqProtein": "NP_006505.4",
      "exons": [
        {
          "start": 38696807,
          "end": 38698562
        },
        {
          "start": 38701839,
          "end": 38702109
        },
        {
          "start": 38707279,
          "end": 38707383
        },
        {
          "start": 38709478,
          "end": 38709615
        },
        {
          "start": 38710844,
          "end": 38710897
        },
        {
          "start": 38712161,
          "end": 38712445
        },
        {
          "start": 38713958,
          "end": 38714080
        },
        {
          "start": 38718653,
          "end": 38718826
        },
        {
          "start": 38722258,
          "end": 38722412
        },
        {
          "start": 38723430,
          "end": 38723553
        },
        {
          "start": 38725174,
          "end": 38725314
        },
        {
          "start": 38726606,
          "end": 38727052
        },
        {
          "start": 38728542,
          "end": 38728901
        },
        {
          "start": 38739515,
          "end": 38739688
        },
        {
          "start": 38742291,
          "end": 38742529
        },
        {
          "start": 38750073,
          "end": 38750184
        },
        {
          "start": 38752219,
          "end": 38752512
        },
        {
          "start": 38755788,
          "end": 38755958
        },
        {
          "start": 38756674,
          "end": 38756871
        },
        {
          "start": 38757018,
          "end": 38757159
        },
        {
          "start": 38760681,
          "end": 38760747
        },
        {
          "start": 38761192,
          "end": 38761383
        },
        {
          "start": 38763505,
          "end": 38763596
        },
        {
          "start": 38771279,
          "end": 38771407
        },
        {
          "start": 38788956,
          "end": 38789036
        },
        {
          "start": 38792050,
          "end": 38792168
        },
        {
          "start": 38793741,
          "end": 38794042
        },
        {
          "start": 38816037,
          "end": 38816217
        }
      ],
      "cds": {
        "start": 38697349,
        "end": 38794010
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 38738293,
      "end": 38835501,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 38256512,
      "end": 39256511,
      "genes": [
        {
          "symbol": "SLC22A13",
          "ensemblId": "ENSG00000172940",
          "biotype": "protein_coding",
          "start": 38265812,
          "end": 38278757,
          "strand": "+",
          "slug": "slc22a13"
        },
        {
          "symbol": "SLC22A14",
          "ensemblId": "ENSG00000144671",
          "biotype": "protein_coding",
          "start": 38282294,
          "end": 38318575,
          "strand": "+",
          "slug": "slc22a14"
        },
        {
          "symbol": "XYLB",
          "ensemblId": "ENSG00000093217",
          "biotype": "protein_coding",
          "start": 38346743,
          "end": 38428434,
          "strand": "+",
          "slug": "xylb"
        },
        {
          "symbol": "ACVR2B",
          "ensemblId": "ENSG00000114739",
          "biotype": "protein_coding",
          "start": 38453843,
          "end": 38493142,
          "strand": "+",
          "slug": "acvr2b"
        },
        {
          "symbol": "EXOG",
          "ensemblId": "ENSG00000157036",
          "biotype": "protein_coding",
          "start": 38496127,
          "end": 38542242,
          "strand": "+",
          "slug": "exog"
        },
        {
          "symbol": "SCN5A",
          "ensemblId": "ENSG00000183873",
          "biotype": "protein_coding",
          "start": 38548057,
          "end": 38649743,
          "strand": "-",
          "slug": "scn5a"
        },
        {
          "symbol": "SCN11A",
          "ensemblId": "ENSG00000168356",
          "biotype": "protein_coding",
          "start": 38845758,
          "end": 39052157,
          "strand": "-",
          "slug": "scn11a"
        },
        {
          "symbol": "WDR48",
          "ensemblId": "ENSG00000114742",
          "biotype": "protein_coding",
          "start": 39051991,
          "end": 39096671,
          "strand": "+",
          "slug": "wdr48"
        },
        {
          "symbol": "GORASP1",
          "ensemblId": "ENSG00000114745",
          "biotype": "protein_coding",
          "start": 39095222,
          "end": 39108369,
          "strand": "-",
          "slug": "gorasp1"
        },
        {
          "symbol": "TTC21A",
          "ensemblId": "ENSG00000168026",
          "biotype": "protein_coding",
          "start": 39107194,
          "end": 39140973,
          "strand": "+",
          "slug": "ttc21a"
        },
        {
          "symbol": "CSRNP1",
          "ensemblId": "ENSG00000144655",
          "biotype": "protein_coding",
          "start": 39141854,
          "end": 39154852,
          "strand": "-",
          "slug": "csrnp1"
        },
        {
          "symbol": "XIRP1",
          "ensemblId": "ENSG00000168334",
          "biotype": "protein_coding",
          "start": 39183210,
          "end": 39192660,
          "strand": "-",
          "slug": "xirp1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "희귀 유전성 말초신경병증",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "유전성 말초신경병증",
            "genes": 233,
            "inheritance": null,
            "description": "길이가 긴 신경섬유를 건강하게 유지하는 데 필요한 여러 유전자 중 하나의 변화로 발생합니다. 이 보고서에 포함된 유전자 중 IGHMBP2와 PLEKHG5는 열성 유전 방식을 따릅니다.",
            "management": "물리치료, 보조기 및 작업치료가 이동 능력을 유지하는 데 도움이 되며, 필요한 경우 발 기형에 대한 수술을 시행합니다. 일부 유형에서는 호흡 상태를 모니터링해야 합니다. 유전 상담을 통해 관련 유전자의 유전 양식에 따라 가족 검사를 안내받을 수 있습니다.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "allodynia",
        "name": "Allodynia",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/allodynia"
      },
      {
        "slug": "leukemia",
        "name": "Blood cancer",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/leukemia"
      },
      {
        "slug": "complete-right-bundle-branch-block",
        "name": "Complete right bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/complete-right-bundle-branch-block"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "decreased-absent-ankle-reflexes",
        "name": "Decreased/absent ankle reflexes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-absent-ankle-reflexes"
      },
      {
        "slug": "dysesthesia",
        "name": "Dysesthesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysesthesia"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "erythromelalgia",
        "name": "Erythromelalgia",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erythromelalgia"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "first-degree-atrioventricular-block",
        "name": "First degree atrioventricular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/first-degree-atrioventricular-block"
      },
      {
        "slug": "pedal-edema",
        "name": "Fluid accumulation in lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pedal-edema"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "hypothermia",
        "name": "Hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothermia"
      },
      {
        "slug": "vasculitis",
        "name": "Inflammation of blood vessel",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vasculitis"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "paroxysmal-ventricular-tachycardia",
        "name": "Paroxysmal ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paroxysmal-ventricular-tachycardia"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "abnormality-of-thrombocytes",
        "name": "Platelet abnormalities",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-thrombocytes"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "sick-sinus-syndrome",
        "name": "Sick sinus syndrome",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sick-sinus-syndrome"
      },
      {
        "slug": "st-segment-elevation",
        "name": "ST segment elevation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/st-segment-elevation"
      },
      {
        "slug": "supraventricular-tachycardia",
        "name": "Supraventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supraventricular-tachycardia"
      },
      {
        "slug": "trifascicular-block",
        "name": "Trifascicular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/trifascicular-block"
      },
      {
        "slug": "ventricular-arrhythmia",
        "name": "Ventricular arrhythmia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ventricular-arrhythmia"
      },
      {
        "slug": "ventricular-fibrillation",
        "name": "Ventricular fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-fibrillation"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/aars1"
      },
      {
        "slug": "abhd12",
        "symbol": "ABHD12",
        "name": "abhydrolase domain containing 12, lysophospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/abhd12"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/aifm1"
      },
      {
        "slug": "apoa1",
        "symbol": "APOA1",
        "name": "apolipoprotein A1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/apoa1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/arsa"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/atl1"
      },
      {
        "slug": "atl3",
        "symbol": "ATL3",
        "name": "atlastin GTPase 3",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/atl3"
      },
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/atp1a1"
      },
      {
        "slug": "atp5mk",
        "symbol": "ATP5MK",
        "name": "ATP synthase membrane subunit k",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/atp5mk"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/atp7a"
      },
      {
        "slug": "bicd2",
        "symbol": "BICD2",
        "name": "BICD cargo adaptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/bicd2"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/bscl2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}