{
  "url": "https://dantelabs.com/cs/genes/tmem43",
  "gene": {
    "slug": "tmem43",
    "symbol": "TMEM43",
    "name": "transmembrane protein 43",
    "hgnc": "HGNC:28472",
    "summary": null,
    "location": "3p25.1",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC3222",
      "DKFZp586G1919",
      "LUMA"
    ],
    "previousSymbols": [
      "ARVD5"
    ],
    "ensemblId": "ENSG00000170876",
    "entrezId": 79188,
    "omim": [
      "612048"
    ],
    "uniprot": [
      "Q9BTV4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 14125052,
      "end": 14143680,
      "strand": "+",
      "ensemblTranscript": "ENST00000306077.5",
      "refseqTranscript": "NM_024334.3",
      "ensemblProtein": "ENSP00000303992.5",
      "refseqProtein": "NP_077310.1",
      "exons": [
        {
          "start": 14125052,
          "end": 14125205
        },
        {
          "start": 14129412,
          "end": 14129561
        },
        {
          "start": 14130822,
          "end": 14130956
        },
        {
          "start": 14131580,
          "end": 14131674
        },
        {
          "start": 14132546,
          "end": 14132595
        },
        {
          "start": 14132866,
          "end": 14132935
        },
        {
          "start": 14133739,
          "end": 14133809
        },
        {
          "start": 14134770,
          "end": 14134891
        },
        {
          "start": 14135158,
          "end": 14135232
        },
        {
          "start": 14135807,
          "end": 14135908
        },
        {
          "start": 14139180,
          "end": 14139297
        },
        {
          "start": 14141593,
          "end": 14143680
        }
      ],
      "cds": {
        "start": 14125194,
        "end": 14141795
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 14166440,
      "end": 14185179,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 13634366,
      "end": 14634365,
      "genes": [
        {
          "symbol": "FBLN2",
          "ensemblId": "ENSG00000163520",
          "biotype": "protein_coding",
          "start": 13549073,
          "end": 13638504,
          "strand": "+",
          "slug": "fbln2"
        },
        {
          "symbol": "WNT7A",
          "ensemblId": "ENSG00000154764",
          "biotype": "protein_coding",
          "start": 13816157,
          "end": 13880104,
          "strand": "-",
          "slug": "wnt7a"
        },
        {
          "symbol": "CHCHD4",
          "ensemblId": "ENSG00000163528",
          "biotype": "protein_coding",
          "start": 14112077,
          "end": 14124876,
          "strand": "-",
          "slug": "chchd4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000268279",
          "biotype": "protein_coding",
          "start": 14135217,
          "end": 14148252,
          "strand": "+"
        },
        {
          "symbol": "XPC",
          "ensemblId": "ENSG00000154767",
          "biotype": "protein_coding",
          "start": 14145145,
          "end": 14178767,
          "strand": "-",
          "slug": "xpc"
        },
        {
          "symbol": "LSM3",
          "ensemblId": "ENSG00000170860",
          "biotype": "protein_coding",
          "start": 14178749,
          "end": 14216186,
          "strand": "+",
          "slug": "lsm3"
        },
        {
          "symbol": "SLC6A6",
          "ensemblId": "ENSG00000131389",
          "biotype": "protein_coding",
          "start": 14402564,
          "end": 14489349,
          "strand": "+",
          "slug": "slc6a6"
        },
        {
          "symbol": "GRIP2",
          "ensemblId": "ENSG00000144596",
          "biotype": "protein_coding",
          "start": 14489107,
          "end": 14556075,
          "strand": "-",
          "slug": "grip2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "arrhythmogenic-cardiomyopathy",
        "name": "Arrhythmogenic Cardiomyopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0016587",
            "name": "Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)",
            "genes": 10,
            "inheritance": null,
            "description": "Progressive replacement of heart muscle by fat and scar tissue, mainly in the right ventricle, causing ventricular arrhythmias; usually caused by variants in the desmosome genes PKP2, DSP, DSG2, DSC2 and JUP, or in TMEM43, PLN or DES.",
            "management": "A diagnosis supports regular rhythm monitoring, advice on limiting endurance exercise, decisions about implantable defibrillators and testing of relatives.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/arrhythmogenic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-speech-discrimination",
        "name": "Abnormal speech discrimination",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/abnormal-speech-discrimination"
      },
      {
        "slug": "absent-muscle-fiber-emerin",
        "name": "Absent muscle fiber emerin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-muscle-fiber-emerin"
      },
      {
        "slug": "back-pain",
        "name": "Back pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/back-pain"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "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": "very-rare",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "emg-myopathic-abnormalities",
        "name": "EMG: myopathic abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "premature-ventricular-contraction",
        "name": "Extra heart beat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/premature-ventricular-contraction"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "sprengel-anomaly",
        "name": "High shoulder blade",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sprengel-anomaly"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "lipodystrophy",
        "name": "Inability to make and keep healthy fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lipodystrophy"
      },
      {
        "slug": "vocal-cord-paralysis",
        "name": "Inability to move vocal cords",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/vocal-cord-paralysis"
      },
      {
        "slug": "decreased-cervical-spine-flexion-due-to-contractures-of-posterior-cervical-muscles",
        "name": "Inability to touch chin to chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-cervical-spine-flexion-due-to-contractures-of-posterior-cervical-muscles"
      },
      {
        "slug": "elevated-circulating-ldl-c-concentration",
        "name": "Increased circulating LDL level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-ldl-c-concentration"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "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": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "name": "Limb-girdle muscular dystrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limb-girdle-muscular-dystrophy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscular-dystrophy",
        "name": "Muscular dystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscular-dystrophy"
      },
      {
        "slug": "myotonia",
        "name": "Myotonia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myotonia"
      },
      {
        "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": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "presyncope",
        "name": "Presyncope",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/presyncope"
      },
      {
        "slug": "prolonged-qrs-complex",
        "name": "Prolonged QRS complex",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/prolonged-qrs-complex"
      },
      {
        "slug": "hyperlordosis",
        "name": "Prominent swayback",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperlordosis"
      },
      {
        "slug": "proximal-lower-limb-muscle-weakness",
        "name": "Proximal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "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-amyotrophy",
        "name": "Proximal upper limb amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-upper-limb-amyotrophy"
      },
      {
        "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": "atrial-fibrillation",
        "name": "Quivering upper heart chambers resulting in irregular heartbeat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-fibrillation"
      },
      {
        "slug": "spinal-rigidity",
        "name": "Reduced spine movement",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spinal-rigidity"
      },
      {
        "slug": "right-ventricular-cardiomyopathy",
        "name": "Right ventricular cardiomyopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/right-ventricular-cardiomyopathy"
      },
      {
        "slug": "rimmed-vacuoles",
        "name": "Rimmed vacuoles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rimmed-vacuoles"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "achilles-tendon-contracture",
        "name": "Shortening of the achilles tendon",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/achilles-tendon-contracture"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "sudden-cardiac-death",
        "name": "Sudden cardiac death",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/sudden-cardiac-death"
      },
      {
        "slug": "supraventricular-arrhythmia",
        "name": "Supraventricular arrhythmia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supraventricular-arrhythmia"
      },
      {
        "slug": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "type-1-muscle-fiber-atrophy",
        "name": "Type 1 muscle fiber atrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-1-muscle-fiber-atrophy"
      },
      {
        "slug": "ventricular-escape-rhythm",
        "name": "Ventricular escape rhythm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ventricular-escape-rhythm"
      },
      {
        "slug": "ventricular-tachycardia",
        "name": "Ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-tachycardia"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/waddling-gait"
      },
      {
        "slug": "proximal-amyotrophy",
        "name": "Wasting of muscles near the body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-amyotrophy"
      },
      {
        "slug": "proximal-lower-limb-amyotrophy",
        "name": "Wasting of thigh muscle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-lower-limb-amyotrophy"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [
      {
        "slug": "cdh2",
        "symbol": "CDH2",
        "name": "cadherin 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cdh2"
      },
      {
        "slug": "des",
        "symbol": "DES",
        "name": "desmin",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/des"
      },
      {
        "slug": "dsc2",
        "symbol": "DSC2",
        "name": "desmocollin 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dsc2"
      },
      {
        "slug": "dsg2",
        "symbol": "DSG2",
        "name": "desmoglein 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dsg2"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "name": "desmoplakin",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dsp"
      },
      {
        "slug": "jup",
        "symbol": "JUP",
        "name": "junction plakoglobin",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/jup"
      },
      {
        "slug": "pkp2",
        "symbol": "PKP2",
        "name": "plakophilin 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/pkp2"
      },
      {
        "slug": "pln",
        "symbol": "PLN",
        "name": "phospholamban",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/pln"
      },
      {
        "slug": "ryr2",
        "symbol": "RYR2",
        "name": "ryanodine receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ryr2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 1,
    "url": "https://dantelabs.com/genes/tmem43/variants",
    "items": [
      {
        "slug": "s358l",
        "name": "S358L",
        "commonName": null,
        "symbol": "TMEM43",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.1073C>T",
        "position": 14141665,
        "grch37Position": 14183165,
        "part": {
          "kind": "exon",
          "number": 12
        },
        "url": "https://dantelabs.com/genes/tmem43/variants/s358l"
      }
    ]
  }
}