{
  "url": "https://dantelabs.com/lt/genes/chrna1",
  "gene": {
    "slug": "chrna1",
    "symbol": "CHRNA1",
    "name": "cholinergic receptor nicotinic alpha 1 subunit",
    "hgnc": "HGNC:1955",
    "summary": null,
    "location": "2q31.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "CHRNA"
    ],
    "ensemblId": "ENSG00000138435",
    "entrezId": 1134,
    "omim": [
      "100690"
    ],
    "uniprot": [
      "P02708"
    ],
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 174747592,
      "end": 174764472,
      "strand": "-",
      "ensemblTranscript": "ENST00000348749.9",
      "refseqTranscript": "NM_000079.4",
      "ensemblProtein": "ENSP00000261008.5",
      "refseqProtein": "NP_000070.1",
      "exons": [
        {
          "start": 174747592,
          "end": 174748255
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        {
          "start": 174748580,
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        {
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          "end": 174754414
        },
        {
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        },
        {
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        },
        {
          "start": 174759488,
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        },
        {
          "start": 174764352,
          "end": 174764472
        }
      ],
      "cds": {
        "start": 174748124,
        "end": 174764394
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 175612320,
      "end": 175629200,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 174256032,
      "end": 175256031,
      "genes": [
        {
          "symbol": "SP9",
          "ensemblId": "ENSG00000217236",
          "biotype": "protein_coding",
          "start": 174334948,
          "end": 174338707,
          "strand": "+",
          "slug": "sp9"
        },
        {
          "symbol": "CIRSR",
          "ensemblId": "ENSG00000138433",
          "biotype": "protein_coding",
          "start": 174346961,
          "end": 174395712,
          "strand": "-",
          "slug": "cirsr"
        },
        {
          "symbol": "SCRN3",
          "ensemblId": "ENSG00000144306",
          "biotype": "protein_coding",
          "start": 174395724,
          "end": 174432340,
          "strand": "+",
          "slug": "scrn3"
        },
        {
          "symbol": "GPR155",
          "ensemblId": "ENSG00000163328",
          "biotype": "protein_coding",
          "start": 174431571,
          "end": 174487150,
          "strand": "-",
          "slug": "gpr155"
        },
        {
          "symbol": "WIPF1",
          "ensemblId": "ENSG00000115935",
          "biotype": "protein_coding",
          "start": 174559563,
          "end": 174682916,
          "strand": "-",
          "slug": "wipf1"
        },
        {
          "symbol": "CHN1",
          "ensemblId": "ENSG00000128656",
          "biotype": "protein_coding",
          "start": 174797579,
          "end": 175005405,
          "strand": "-",
          "slug": "chn1"
        },
        {
          "symbol": "ATF2",
          "ensemblId": "ENSG00000115966",
          "biotype": "protein_coding",
          "start": 175072250,
          "end": 175168382,
          "strand": "-",
          "slug": "atf2"
        },
        {
          "symbol": "ATP5MC3",
          "ensemblId": "ENSG00000154518",
          "biotype": "protein_coding",
          "start": 175172968,
          "end": 175181764,
          "strand": "-",
          "slug": "atp5mc3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-myasthenic-syndrome",
        "name": "Įgimtas miasteninis sindromas",
        "diseases": [
          {
            "mondoId": "MONDO:0011088",
            "name": "Įgimtas miasteninis sindromas 1a",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Bet koks įgimtas miasteninis sindromas, kurio priežastis – mutacija CHRNA1 gene.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018940",
            "name": "Įgimtas miasteninis sindromas (visi tipai)",
            "genes": 27,
            "inheritance": null,
            "description": "Bendras terminas, apimantis visus įgimtus miasteninius sindromus, įskaitant dažnas CHRNE, RAPSN, DOK7 ir MUSK formas.",
            "management": "Daugelis formų gerai reaguoja į specifinius vaistus, pavyzdžiui, piridostigminą, salbutamolį ar efedriną, o tinkamas pasirinkimas priklauso nuo konkretaus geno.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/congenital-myasthenic-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormal-cervical-curvature",
        "name": "Abnormal neck curve",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-cervical-curvature"
      },
      {
        "slug": "amyoplasia",
        "name": "Absent muscles since birth",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/amyoplasia"
      },
      {
        "slug": "akinesia",
        "name": "Akinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/akinesia"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "bulbar-palsy",
        "name": "Bulbar palsy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/bulbar-palsy"
      },
      {
        "slug": "impaired-mastication",
        "name": "Chewing difficulties",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-mastication"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "upper-limb-muscle-weakness",
        "name": "Decreased arm strength",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "decreased-miniature-endplate-potentials",
        "name": "Decreased miniature endplate potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-miniature-endplate-potentials"
      },
      {
        "slug": "decreased-size-of-nerve-terminals",
        "name": "Decreased size of nerve terminals",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-size-of-nerve-terminals"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation",
        "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "fatigable-weakness",
        "name": "Fatigable weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fatigable-weakness"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fetal-akinesia-sequence",
        "name": "Fetal akinesia sequence",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/fetal-akinesia-sequence"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "hand-muscle-atrophy",
        "name": "Hand muscle degeneration",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hand-muscle-atrophy"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "intermittent-episodes-of-respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Intermittent episodes of respiratory insufficiency due to muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/intermittent-episodes-of-respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "intrinsic-hand-muscle-atrophy",
        "name": "Intrinsic hand muscle atrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrinsic-hand-muscle-atrophy"
      },
      {
        "slug": "joint-dislocation",
        "name": "Joint dislocation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/joint-dislocation"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "limb-muscle-weakness",
        "name": "Limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-muscle-weakness"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "malignant-hyperthermia",
        "name": "Malignant hyperthermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/malignant-hyperthermia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "multiple-pterygia",
        "name": "Multiple pterygia",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/multiple-pterygia"
      },
      {
        "slug": "neck-muscle-weakness",
        "name": "Neck muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neck-muscle-weakness"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prolonged-miniature-endplate-currents",
        "name": "Prolonged miniature endplate currents",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/prolonged-miniature-endplate-currents"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-finger",
        "name": "Short finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-finger"
      },
      {
        "slug": "thin-ribs",
        "name": "Thin ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thin-ribs"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      },
      {
        "slug": "type-2-muscle-fiber-atrophy",
        "name": "Type 2 muscle fiber atrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/type-2-muscle-fiber-atrophy"
      },
      {
        "slug": "hypoplastic-ventricle",
        "name": "Underdeveloped cardiac ventricle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-ventricle"
      },
      {
        "slug": "vertebral-fusion",
        "name": "Vertebral fusion",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/vertebral-fusion"
      },
      {
        "slug": "weak-cry",
        "name": "Weak cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/weak-cry"
      },
      {
        "slug": "diaphragmatic-weakness",
        "name": "Weak diaphragm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diaphragmatic-weakness"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      },
      {
        "slug": "ophthalmoparesis",
        "name": "Weakness of muscles controlling eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ophthalmoparesis"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "agrn",
        "symbol": "AGRN",
        "name": "agrin",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/agrn"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg2"
      },
      {
        "slug": "chat",
        "symbol": "CHAT",
        "name": "choline O-acetyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/chat"
      },
      {
        "slug": "chrnb1",
        "symbol": "CHRNB1",
        "name": "cholinergic receptor nicotinic beta 1 subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/chrnb1"
      },
      {
        "slug": "chrnd",
        "symbol": "CHRND",
        "name": "cholinergic receptor nicotinic delta subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/chrnd"
      },
      {
        "slug": "chrne",
        "symbol": "CHRNE",
        "name": "cholinergic receptor nicotinic epsilon subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/chrne"
      },
      {
        "slug": "col13a1",
        "symbol": "COL13A1",
        "name": "collagen type XIII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/col13a1"
      },
      {
        "slug": "colq",
        "symbol": "COLQ",
        "name": "collagen like tail subunit of asymmetric acetylcholinesterase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/colq"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "name": "docking protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/dok7"
      },
      {
        "slug": "dpagt1",
        "symbol": "DPAGT1",
        "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/dpagt1"
      },
      {
        "slug": "gfpt1",
        "symbol": "GFPT1",
        "name": "glutamine--fructose-6-phosphate transaminase 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/gfpt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}