{
  "url": "https://dantelabs.com/fi/genes/hmgcr",
  "gene": {
    "slug": "hmgcr",
    "symbol": "HMGCR",
    "name": "3-hydroxy-3-methylglutaryl-CoA reductase",
    "hgnc": "HGNC:5006",
    "summary": null,
    "location": "5q13.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000113161",
    "entrezId": 3156,
    "omim": [
      "142910"
    ],
    "uniprot": [
      "P04035"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 75337220,
      "end": 75362101,
      "strand": "+",
      "ensemblTranscript": "ENST00000287936.9",
      "refseqTranscript": "NM_000859.3",
      "ensemblProtein": "ENSP00000287936.4",
      "refseqProtein": "NP_000850.1",
      "exons": [
        {
          "start": 75337220,
          "end": 75337300
        },
        {
          "start": 75342583,
          "end": 75342770
        },
        {
          "start": 75343853,
          "end": 75343964
        },
        {
          "start": 75344245,
          "end": 75344332
        },
        {
          "start": 75345574,
          "end": 75345658
        },
        {
          "start": 75347204,
          "end": 75347309
        },
        {
          "start": 75350042,
          "end": 75350148
        },
        {
          "start": 75350258,
          "end": 75350374
        },
        {
          "start": 75350789,
          "end": 75350949
        },
        {
          "start": 75351068,
          "end": 75351315
        },
        {
          "start": 75351424,
          "end": 75351602
        },
        {
          "start": 75354503,
          "end": 75354697
        },
        {
          "start": 75355056,
          "end": 75355214
        },
        {
          "start": 75355365,
          "end": 75355522
        },
        {
          "start": 75356343,
          "end": 75356448
        },
        {
          "start": 75358657,
          "end": 75358827
        },
        {
          "start": 75359170,
          "end": 75359310
        },
        {
          "start": 75359398,
          "end": 75359556
        },
        {
          "start": 75359985,
          "end": 75360139
        },
        {
          "start": 75360288,
          "end": 75362101
        }
      ],
      "cds": {
        "start": 75342606,
        "end": 75360342
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 74632154,
      "end": 74657929,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 74849661,
      "end": 75849660,
      "genes": [
        {
          "symbol": "FAM169A",
          "ensemblId": "ENSG00000198780",
          "biotype": "protein_coding",
          "start": 74777573,
          "end": 74867022,
          "strand": "-",
          "slug": "fam169a"
        },
        {
          "symbol": "GCNT4",
          "ensemblId": "ENSG00000176928",
          "biotype": "protein_coding",
          "start": 75025346,
          "end": 75054516,
          "strand": "-",
          "slug": "gcnt4"
        },
        {
          "symbol": "ANKRD31",
          "ensemblId": "ENSG00000145700",
          "biotype": "protein_coding",
          "start": 75068275,
          "end": 75236915,
          "strand": "-",
          "slug": "ankrd31"
        },
        {
          "symbol": "CERT1",
          "ensemblId": "ENSG00000113163",
          "biotype": "protein_coding",
          "start": 75356345,
          "end": 75512138,
          "strand": "-",
          "slug": "cert1"
        },
        {
          "symbol": "POLK",
          "ensemblId": "ENSG00000122008",
          "biotype": "protein_coding",
          "start": 75511377,
          "end": 75609991,
          "strand": "+",
          "slug": "polk"
        },
        {
          "symbol": "ANKDD1B",
          "ensemblId": "ENSG00000189045",
          "biotype": "protein_coding",
          "start": 75611182,
          "end": 75681773,
          "strand": "+",
          "slug": "ankdd1b"
        },
        {
          "symbol": "POC5",
          "ensemblId": "ENSG00000152359",
          "biotype": "protein_coding",
          "start": 75674124,
          "end": 75717453,
          "strand": "-",
          "slug": "poc5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "name": "Raajalihasdystrofia (Limb-Girdle)",
        "diseases": [
          {
            "mondoId": "MONDO:0016971",
            "name": "Raajavyöhykkeen lihasdystrofia",
            "genes": 33,
            "inheritance": null,
            "description": "Raajavyöhykkeen lihasdystrofialla tarkoitetaan useita alatyyppejä, joilla on erilaiset periytymismallit (ja myös diagnoosin varmuus vaihtelee). Taudin kanssa yhteydessä olevia variantteja kantavien kannattaa hakeutua lihas- ja luustoerikoislääkärin arvioon varmistavaa diagnoosia varten.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/limb-girdle-muscular-dystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "axial-muscle-weakness",
        "name": "Axial muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-muscle-weakness"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "exercise-induced-myalgia",
        "name": "Exercise-induced muscle pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exercise-induced-myalgia"
      },
      {
        "slug": "increased-circulating-troponin-t-concentration",
        "name": "Increased circulating troponin T concentration",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-troponin-t-concentration"
      },
      {
        "slug": "increased-endomysial-connective-tissue",
        "name": "Increased endomysial connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-endomysial-connective-tissue"
      },
      {
        "slug": "increased-intramyocellular-lipid-droplets",
        "name": "Increased intramyocellular lipid droplets",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-intramyocellular-lipid-droplets"
      },
      {
        "slug": "calf-muscle-hypertrophy",
        "name": "Increased size of calf muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/calf-muscle-hypertrophy"
      },
      {
        "slug": "left-ventricular-diastolic-dysfunction",
        "name": "Left ventricular diastolic dysfunction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-ventricular-diastolic-dysfunction"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "lower-limb-amyotrophy",
        "name": "Lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-amyotrophy"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "proximal-lower-limb-muscle-weakness",
        "name": "Proximal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proximal-lower-limb-muscle-weakness"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "proximal-upper-limb-muscle-weakness",
        "name": "Proximal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-upper-limb-muscle-weakness"
      },
      {
        "slug": "reduced-muscle-fiber-alpha-dystroglycan",
        "name": "Reduced muscle fiber alpha dystroglycan",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-muscle-fiber-alpha-dystroglycan"
      },
      {
        "slug": "respiratory-failure-requiring-assisted-ventilation",
        "name": "Respiratory failure requiring assisted ventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "type-1-muscle-fiber-predominance",
        "name": "Type 1 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance"
      },
      {
        "slug": "type-2-muscle-fiber-predominance",
        "name": "Type 2 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/type-2-muscle-fiber-predominance"
      },
      {
        "slug": "upper-limb-amyotrophy",
        "name": "Upper limb amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/upper-limb-amyotrophy"
      }
    ],
    "related": [
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ano5"
      },
      {
        "slug": "capn3",
        "symbol": "CAPN3",
        "name": "calpain 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/capn3"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "name": "collagen type VI alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "name": "collagen type VI alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/col6a3"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "name": "dystroglycan 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dag1"
      },
      {
        "slug": "dnajb6",
        "symbol": "DNAJB6",
        "name": "DnaJ heat shock protein family (Hsp40) member B6",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dnajb6"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "name": "dysferlin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dysf"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "name": "fukutin related protein",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/fktn"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "name": "GDP-mannose pyrophosphorylase B",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gmppb"
      },
      {
        "slug": "hnrnpdl",
        "symbol": "HNRNPDL",
        "name": "heterogeneous nuclear ribonucleoprotein D like",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/hnrnpdl"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}