{
  "url": "https://dantelabs.com/et/genes/ndufa10",
  "gene": {
    "slug": "ndufa10",
    "symbol": "NDUFA10",
    "name": "NADH:ubiquinone oxidoreductase subunit A10",
    "hgnc": "HGNC:7684",
    "summary": null,
    "location": "2q37.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CI-42k"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000130414",
    "entrezId": 4705,
    "omim": [
      "603835"
    ],
    "uniprot": [
      "O95299"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 239957372,
      "end": 240025342,
      "strand": "-",
      "ensemblTranscript": "ENST00000252711.7",
      "refseqTranscript": "NM_004544.4",
      "ensemblProtein": "ENSP00000252711.2",
      "refseqProtein": "NP_004535.1",
      "exons": [
        {
          "start": 239957372,
          "end": 239961186
        },
        {
          "start": 239990074,
          "end": 239990182
        },
        {
          "start": 240005210,
          "end": 240005295
        },
        {
          "start": 240007316,
          "end": 240007370
        },
        {
          "start": 240011617,
          "end": 240011696
        },
        {
          "start": 240014739,
          "end": 240014860
        },
        {
          "start": 240018553,
          "end": 240018639
        },
        {
          "start": 240021197,
          "end": 240021412
        },
        {
          "start": 240022172,
          "end": 240022340
        },
        {
          "start": 240025227,
          "end": 240025342
        }
      ],
      "cds": {
        "start": 239961118,
        "end": 240025301
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 240831867,
      "end": 240964819,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 239491357,
      "end": 240491356,
      "genes": [
        {
          "symbol": "OR6B2",
          "ensemblId": "ENSG00000182083",
          "biotype": "protein_coding",
          "start": 240029491,
          "end": 240030429,
          "strand": "-",
          "slug": "or6b2"
        },
        {
          "symbol": "OR6B3",
          "ensemblId": "ENSG00000178586",
          "biotype": "protein_coding",
          "start": 240044571,
          "end": 240053807,
          "strand": "-",
          "slug": "or6b3"
        },
        {
          "symbol": "COPS9",
          "ensemblId": "ENSG00000172428",
          "biotype": "protein_coding",
          "start": 240126563,
          "end": 240136807,
          "strand": "-",
          "slug": "cops9"
        },
        {
          "symbol": "OTOS",
          "ensemblId": "ENSG00000178602",
          "biotype": "protein_coding",
          "start": 240139026,
          "end": 240144562,
          "strand": "-",
          "slug": "otos"
        },
        {
          "symbol": "GPC1",
          "ensemblId": "ENSG00000063660",
          "biotype": "protein_coding",
          "start": 240435434,
          "end": 240468115,
          "strand": "+",
          "slug": "gpc1"
        },
        {
          "symbol": "ANKMY1",
          "ensemblId": "ENSG00000144504",
          "biotype": "protein_coding",
          "start": 240479422,
          "end": 240569209,
          "strand": "-",
          "slug": "ankmy1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primaarne mitokondriaalne haigus",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Mitokondriaalse hingamisahela kompleksi puudulikkus",
            "genes": 61,
            "inheritance": null,
            "description": "Kompleksi I, II, III, IV või V isoleeritud puudulikkus, mida põhjustavad tuuma- või mitokondriaalsete geenide variandid. See võib mõjutada aju, lihaseid, südant, maksa ja teisi energiavajadusega elundeid.",
            "management": "Teadmine võib lõpetada diagnoosiotsingu ning suunata mõjutatud elundite jälgimist ja mitokondritele toksiliste ravimite vältimist.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/et/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "elevated-lactate-pyruvate-ratio",
        "name": "Elevated lactate:pyruvate ratio",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-lactate-pyruvate-ratio"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "fetal-distress",
        "name": "Fetal distress",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fetal-distress"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      }
    ],
    "related": [
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/acad9"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/atp5f1e"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/bcs1l"
      },
      {
        "slug": "coa6",
        "symbol": "COA6",
        "name": "cytochrome c oxidase assembly factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/coa6"
      },
      {
        "slug": "coa8",
        "symbol": "COA8",
        "name": "cytochrome c oxidase assembly factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/coa8"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cox10"
      },
      {
        "slug": "cox15",
        "symbol": "COX15",
        "name": "cytochrome c oxidase assembly factor COX15",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cox15"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "name": "cytochrome c oxidase assembly factor COX16",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cox16"
      },
      {
        "slug": "cox20",
        "symbol": "COX20",
        "name": "cytochrome c oxidase assembly factor COX20",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cox20"
      },
      {
        "slug": "cox6b1",
        "symbol": "COX6B1",
        "name": "cytochrome c oxidase subunit 6B1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cox6b1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}