{
  "url": "https://dantelabs.com/hu/genes/prkag2",
  "gene": {
    "slug": "prkag2",
    "symbol": "PRKAG2",
    "name": "protein kinase AMP-activated non-catalytic subunit gamma 2",
    "hgnc": "HGNC:9386",
    "summary": null,
    "location": "7q36.1",
    "locusType": "gene with protein product",
    "aliases": [
      "AAKG",
      "AAKG2",
      "H91620p",
      "WPWS",
      "CMH6"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000106617",
    "entrezId": 51422,
    "omim": [
      "602743"
    ],
    "uniprot": [
      "Q9UGJ0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 151556127,
      "end": 151877115,
      "strand": "-",
      "ensemblTranscript": "ENST00000287878.9",
      "refseqTranscript": "NM_016203.4",
      "ensemblProtein": "ENSP00000287878.3",
      "refseqProtein": "NP_057287.2",
      "exons": [
        {
          "start": 151556127,
          "end": 151557232
        },
        {
          "start": 151560524,
          "end": 151560617
        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
          "start": 151595345,
          "end": 151595454
        },
        {
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        },
        {
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        },
        {
          "start": 151781152,
          "end": 151781431
        },
        {
          "start": 151786470,
          "end": 151786541
        },
        {
          "start": 151876507,
          "end": 151877115
        }
      ],
      "cds": {
        "start": 151557201,
        "end": 151876620
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 151253197,
      "end": 151574210,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 151216621,
      "end": 152216620,
      "genes": [
        {
          "symbol": "ABCF2-H2BK1",
          "ensemblId": "ENSG00000285292",
          "biotype": "protein_coding",
          "start": 151207837,
          "end": 151227166,
          "strand": "-",
          "slug": "abcf2-h2bk1"
        },
        {
          "symbol": "ABCF2",
          "ensemblId": "ENSG00000033050",
          "biotype": "protein_coding",
          "start": 151211484,
          "end": 151227264,
          "strand": "-",
          "slug": "abcf2"
        },
        {
          "symbol": "CHPF2",
          "ensemblId": "ENSG00000033100",
          "biotype": "protein_coding",
          "start": 151232483,
          "end": 151240979,
          "strand": "+",
          "slug": "chpf2"
        },
        {
          "symbol": "SMARCD3",
          "ensemblId": "ENSG00000082014",
          "biotype": "protein_coding",
          "start": 151238764,
          "end": 151277896,
          "strand": "-",
          "slug": "smarcd3"
        },
        {
          "symbol": "NUB1",
          "ensemblId": "ENSG00000013374",
          "biotype": "protein_coding",
          "start": 151341704,
          "end": 151381097,
          "strand": "+",
          "slug": "nub1"
        },
        {
          "symbol": "WDR86",
          "ensemblId": "ENSG00000187260",
          "biotype": "protein_coding",
          "start": 151375909,
          "end": 151410727,
          "strand": "-",
          "slug": "wdr86"
        },
        {
          "symbol": "CRYGN",
          "ensemblId": "ENSG00000127377",
          "biotype": "protein_coding",
          "start": 151428293,
          "end": 151440813,
          "strand": "-",
          "slug": "crygn"
        },
        {
          "symbol": "RHEB",
          "ensemblId": "ENSG00000106615",
          "biotype": "protein_coding",
          "start": 151465976,
          "end": 151520120,
          "strand": "-",
          "slug": "rheb"
        },
        {
          "symbol": "GALNTL5",
          "ensemblId": "ENSG00000106648",
          "biotype": "protein_coding",
          "start": 151956379,
          "end": 152019929,
          "strand": "+",
          "slug": "galntl5"
        },
        {
          "symbol": "GALNT11",
          "ensemblId": "ENSG00000178234",
          "biotype": "protein_coding",
          "start": 152025626,
          "end": 152122347,
          "strand": "+",
          "slug": "galnt11"
        },
        {
          "symbol": "KMT2C",
          "ensemblId": "ENSG00000055609",
          "biotype": "protein_coding",
          "start": 152134922,
          "end": 152436656,
          "strand": "-",
          "slug": "kmt2c"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "syndromic-and-metabolic-cardiomyopathies",
        "name": "Syndromic and Metabolic Cardiomyopathies",
        "diseases": [
          {
            "mondoId": "MONDO:0800484",
            "name": "PRKAG2-Related Cardiomyopathy",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "A glycogen storage condition of the heart caused by changes in PRKAG2 that causes thickening of the heart muscle and conduction problems such as Wolff-Parkinson-White pattern.",
            "management": "Knowing about it supports rhythm monitoring, as some people need a pacemaker or treatment of an accessory pathway.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/syndromic-and-metabolic-cardiomyopathies"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Hypertrophic Cardiomyopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0005045",
            "name": "Hypertrophic Cardiomyopathy",
            "genes": 62,
            "inheritance": "autosomal-dominant",
            "description": "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.",
            "management": "Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hypertrophic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "macroglossia",
        "name": "Abnormally large tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "slug": "aborted-sudden-cardiac-death",
        "name": "Aborted sudden cardiac death",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aborted-sudden-cardiac-death"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "anasarca",
        "name": "Anasarca",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anasarca"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "asymmetric-septal-hypertrophy",
        "name": "Asymmetric septal hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/asymmetric-septal-hypertrophy"
      },
      {
        "slug": "atrial-flutter",
        "name": "Atrial flutter",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-flutter"
      },
      {
        "slug": "biventricular-hypertrophy",
        "name": "Biventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/biventricular-hypertrophy"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "eeg-with-burst-suppression",
        "name": "EEG with burst suppression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eeg-with-burst-suppression"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "enlarged-kidney",
        "name": "Enlarged kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enlarged-kidney"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "pulmonary-edema",
        "name": "Excess fluid in lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-edema"
      },
      {
        "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": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "breech-presentation",
        "name": "Feet or buttocks of fetus positioned near opening of uterus",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/breech-presentation"
      },
      {
        "slug": "pericardial-effusion",
        "name": "Fluid around heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pericardial-effusion"
      },
      {
        "slug": "pleural-effusion",
        "name": "Fluid around lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pleural-effusion"
      },
      {
        "slug": "increased-myocardial-glycogen-content",
        "name": "Increased myocardial glycogen content",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-myocardial-glycogen-content"
      },
      {
        "slug": "atrioventricular-block",
        "name": "Interruption of electrical communication between upper and lower chambers of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrioventricular-block"
      },
      {
        "slug": "left-axis-deviation",
        "name": "Left axis deviation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-axis-deviation"
      },
      {
        "slug": "left-bundle-branch-block",
        "name": "Left bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-bundle-branch-block"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "slug": "neonatal-hypoglycemia",
        "name": "Low blood sugar in newborn",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/neonatal-hypoglycemia"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "myofiber-disarray",
        "name": "Myofiber disarray",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/myofiber-disarray"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "paroxysmal-atrial-fibrillation",
        "name": "Paroxysmal atrial fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-atrial-fibrillation"
      },
      {
        "slug": "peripheral-edema",
        "name": "Peripheral edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-edema"
      },
      {
        "slug": "prolonged-qrs-complex",
        "name": "Prolonged QRS complex",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prolonged-qrs-complex"
      },
      {
        "slug": "atrial-fibrillation",
        "name": "Quivering upper heart chambers resulting in irregular heartbeat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-fibrillation"
      },
      {
        "slug": "shortened-pr-interval",
        "name": "Shortened PR interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/shortened-pr-interval"
      },
      {
        "slug": "sinus-bradycardia",
        "name": "Sinus bradycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/sinus-bradycardia"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "st-segment-depression",
        "name": "ST segment depression",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/st-segment-depression"
      },
      {
        "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": "sudden-cardiac-death",
        "name": "Sudden cardiac death",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sudden-cardiac-death"
      },
      {
        "slug": "t-wave-inversion",
        "name": "T-wave inversion",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/t-wave-inversion"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "ventricular-fibrillation",
        "name": "Ventricular fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-fibrillation"
      },
      {
        "slug": "ventricular-preexcitation",
        "name": "Ventricular preexcitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventricular-preexcitation"
      },
      {
        "slug": "ventricular-preexcitation-with-multiple-accessory-pathways",
        "name": "Ventricular preexcitation with multiple accessory pathways",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-preexcitation-with-multiple-accessory-pathways"
      },
      {
        "slug": "wolff-parkinson-white-syndrome",
        "name": "Wolff-Parkinson-White syndrome",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wolff-parkinson-white-syndrome"
      }
    ],
    "related": [
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acadvl"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/actc1"
      },
      {
        "slug": "alpk3",
        "symbol": "ALPK3",
        "name": "alpha kinase 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/alpk3"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/braf"
      },
      {
        "slug": "cdkn1c",
        "symbol": "CDKN1C",
        "name": "cyclin dependent kinase inhibitor 1C",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cdkn1c"
      },
      {
        "slug": "csrp3",
        "symbol": "CSRP3",
        "name": "cysteine and glycine rich protein 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/csrp3"
      },
      {
        "slug": "dhh",
        "symbol": "DHH",
        "name": "desert hedgehog signaling molecule",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dhh"
      },
      {
        "slug": "dhx37",
        "symbol": "DHX37",
        "name": "DEAH-box helicase 37",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dhx37"
      },
      {
        "slug": "dmpk",
        "symbol": "DMPK",
        "name": "DM1 protein kinase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dmpk"
      },
      {
        "slug": "erf",
        "symbol": "ERF",
        "name": "ETS2 repressor factor",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/erf"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "name": "electron transfer flavoprotein subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "name": "electron transfer flavoprotein subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/etfb"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 2,
    "url": "https://dantelabs.com/genes/prkag2/variants",
    "items": [
      {
        "slug": "r302q",
        "name": "R302Q",
        "commonName": null,
        "symbol": "PRKAG2",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.905G>A",
        "position": 151576412,
        "grch37Position": 151273498,
        "part": {
          "kind": "exon",
          "number": 7
        },
        "url": "https://dantelabs.com/genes/prkag2/variants/r302q"
      },
      {
        "slug": "r531q",
        "name": "R531Q",
        "commonName": null,
        "symbol": "PRKAG2",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.1592G>A",
        "position": 151560610,
        "grch37Position": 151257696,
        "part": {
          "kind": "exon",
          "number": 15
        },
        "url": "https://dantelabs.com/genes/prkag2/variants/r531q"
      }
    ]
  }
}