{
  "url": "https://dantelabs.com/sv/genes/stn1",
  "gene": {
    "slug": "stn1",
    "symbol": "STN1",
    "name": "STN1 subunit of CST complex",
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    "summary": null,
    "location": "10q24.33",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ22559",
      "bA541N10.2"
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    "previousSymbols": [
      "OBFC1"
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    "ensemblId": "ENSG00000107960",
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    "omim": [
      "613128"
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    "uniprot": [
      "Q9H668"
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      "release": "v1.5",
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      "refseqTranscript": "NM_024928.5",
      "ensemblProtein": "ENSP00000224950.3",
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    },
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      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
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      "strand": "-"
    },
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        {
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          "ensemblId": "ENSG00000148843",
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        {
          "symbol": "CALHM2",
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          "strand": "-",
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        {
          "symbol": "CALHM1",
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        {
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        {
          "symbol": "NEURL1",
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        {
          "symbol": "SH3PXD2A",
          "ensemblId": "ENSG00000107957",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "sh3pxd2a"
        },
        {
          "symbol": "SLK",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "slk"
        },
        {
          "symbol": "COL17A1",
          "ensemblId": "ENSG00000065618",
          "biotype": "protein_coding",
          "start": 104030753,
          "end": 104086410,
          "strand": "-",
          "slug": "col17a1"
        },
        {
          "symbol": "SFR1",
          "ensemblId": "ENSG00000156384",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "sfr1"
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        {
          "symbol": "CFAP43",
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          "biotype": "protein_coding",
          "start": 104129888,
          "end": 104232364,
          "strand": "-",
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        },
        {
          "symbol": "GSTO1",
          "ensemblId": "ENSG00000148834",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "gsto1"
        },
        {
          "symbol": "GSTO2",
          "ensemblId": "ENSG00000065621",
          "biotype": "protein_coding",
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          "end": 104304950,
          "strand": "+",
          "slug": "gsto2"
        },
        {
          "symbol": "ITPRIP",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "itprip"
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        {
          "symbol": "CFAP58",
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          "biotype": "protein_coding",
          "start": 104353758,
          "end": 104455153,
          "strand": "+",
          "slug": "cfap58"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dyskeratosis-congenita",
        "name": "Dyskeratosis Congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0100137",
            "name": "Telomersyndrom",
            "genes": 16,
            "inheritance": null,
            "description": "Sjukdomar med korta telomerer orsakade av varianter i gener för telomerunderhåll, till exempel TERT, TERC, RTEL1 och PARN. De kan leda till benmärgssvikt, lungfibros och leversjukdom även utan de klassiska hudtecknen.",
            "management": "Regelbunden uppföljning av blodvärden, lungor och lever rekommenderas, och diagnosen styr valet av donator och behandling vid stamcellstransplantation.",
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/dyskeratosis-congenita"
      },
      {
        "slug": "vitreoretinopathy",
        "name": "Vitreoretinopati",
        "diseases": [
          {
            "mondoId": "MONDO:0012815",
            "name": "Coats plus-syndrom",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "Coats plus-syndrom är en pleiotrop multisystemsjukdom som kännetecknas av retinal telangiektasi och exsudat, intrakraniell kalcifikation med leukoencefalopati och hjärncystor, osteopeni med benägenhet för frakturer, benmärgssuppression, gastrointestinal blödning och portal hypertension. Det ärvs autosomalt recessivt.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/vitreoretinopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pulmonary-interstitial-morphology",
        "name": "Abnormality in area between air sacs in lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pulmonary-interstitial-morphology"
      },
      {
        "slug": "abnormally-low-t-cell-receptor-excision-circle-level",
        "name": "Abnormally low T cell receptor excision circle level",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormally-low-t-cell-receptor-excision-circle-level"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "bone-marrow-hypocellularity",
        "name": "Bone marrow failure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity"
      },
      {
        "slug": "clubbing-of-fingers",
        "name": "Clubbing of fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clubbing-of-fingers"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "crackles",
        "name": "Crackles",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/crackles"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "decreased-dlco",
        "name": "Decreased DLCO",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-dlco"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "esophageal-varix",
        "name": "Enlarged vein in esophagus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/esophageal-varix"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "ground-glass-opacification",
        "name": "Ground-glass opacification",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ground-glass-opacification"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "honeycomb-lung",
        "name": "Honeycomb lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/honeycomb-lung"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "motor-regression",
        "name": "Motor regression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-regression"
      },
      {
        "slug": "orthodeoxia",
        "name": "Orthodeoxia",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/orthodeoxia"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "acrocyanosis",
        "name": "Persistent blue color of hands or feet",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acrocyanosis"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "premature-graying-of-hair",
        "name": "Premature graying of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-graying-of-hair"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "pulmonic-regurgitation",
        "name": "Pulmonic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonic-regurgitation"
      },
      {
        "slug": "reduced-forced-vital-capacity",
        "name": "Reduced forced vital capacity",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-forced-vital-capacity"
      },
      {
        "slug": "reticular-pattern-on-pulmonary-hrct",
        "name": "Reticular pattern on pulmonary HRCT",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reticular-pattern-on-pulmonary-hrct"
      },
      {
        "slug": "retinal-telangiectasia",
        "name": "Retinal telangiectasia",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-telangiectasia"
      },
      {
        "slug": "subpleural-honeycombing",
        "name": "Subpleural honeycombing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subpleural-honeycombing"
      },
      {
        "slug": "usual-interstitial-pneumonia",
        "name": "Usual interstitial pneumonia",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/usual-interstitial-pneumonia"
      }
    ],
    "related": [
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "name": "CST telomere replication complex component 1",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/ctc1"
      },
      {
        "slug": "acd",
        "symbol": "ACD",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/acd"
      },
      {
        "slug": "cdca7",
        "symbol": "CDCA7",
        "name": "cell division cycle associated 7",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cdca7"
      },
      {
        "slug": "dnmt3b",
        "symbol": "DNMT3B",
        "name": "DNA methyltransferase 3 beta",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dnmt3b"
      },
      {
        "slug": "hells",
        "symbol": "HELLS",
        "name": "helicase, lymphoid specific",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/hells"
      },
      {
        "slug": "naf1",
        "symbol": "NAF1",
        "name": "nuclear assembly factor 1 ribonucleoprotein",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/naf1"
      },
      {
        "slug": "parn",
        "symbol": "PARN",
        "name": "poly(A)-specific ribonuclease",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/parn"
      },
      {
        "slug": "pola2",
        "symbol": "POLA2",
        "name": "DNA polymerase alpha 2, accessory subunit",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/pola2"
      },
      {
        "slug": "pot1",
        "symbol": "POT1",
        "name": "protection of telomeres 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/pot1"
      },
      {
        "slug": "rpa1",
        "symbol": "RPA1",
        "name": "replication protein A1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/rpa1"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "name": "regulator of telomere elongation helicase 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/rtel1"
      },
      {
        "slug": "terc",
        "symbol": "TERC",
        "name": "telomerase RNA component",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/terc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}