{
  "url": "https://dantelabs.com/hu/genes/csrp3",
  "gene": {
    "slug": "csrp3",
    "symbol": "CSRP3",
    "name": "cysteine and glycine rich protein 3",
    "hgnc": "HGNC:2472",
    "summary": null,
    "location": "11p15.1",
    "locusType": "gene with protein product",
    "aliases": [
      "CLP",
      "MLP",
      "CMD1M"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000129170",
    "entrezId": 8048,
    "omim": [
      "600824"
    ],
    "uniprot": [
      "P50461"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 19182030,
      "end": 19201983,
      "strand": "-",
      "ensemblTranscript": "ENST00000265968.9",
      "refseqTranscript": "NM_003476.5",
      "ensemblProtein": "ENSP00000265968.3",
      "refseqProtein": "NP_003467.1",
      "exons": [
        {
          "start": 19182030,
          "end": 19182746
        },
        {
          "start": 19184952,
          "end": 19185045
        },
        {
          "start": 19186216,
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        },
        {
          "start": 19188136,
          "end": 19188304
        },
        {
          "start": 19192337,
          "end": 19192476
        },
        {
          "start": 19201954,
          "end": 19201983
        }
      ],
      "cds": {
        "start": 19182670,
        "end": 19192448
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 19203578,
      "end": 19232120,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 18692007,
      "end": 19692006,
      "genes": [
        {
          "symbol": "TMEM86A",
          "ensemblId": "ENSG00000151117",
          "biotype": "protein_coding",
          "start": 18693122,
          "end": 18705736,
          "strand": "+",
          "slug": "tmem86a"
        },
        {
          "symbol": "IGSF22",
          "ensemblId": "ENSG00000179057",
          "biotype": "protein_coding",
          "start": 18704312,
          "end": 18726230,
          "strand": "-",
          "slug": "igsf22"
        },
        {
          "symbol": "PTPN5",
          "ensemblId": "ENSG00000110786",
          "biotype": "protein_coding",
          "start": 18727928,
          "end": 18792721,
          "strand": "-",
          "slug": "ptpn5"
        },
        {
          "symbol": "MRGPRX1",
          "ensemblId": "ENSG00000170255",
          "biotype": "protein_coding",
          "start": 18933499,
          "end": 18939414,
          "strand": "-",
          "slug": "mrgprx1"
        },
        {
          "symbol": "MRGPRX2",
          "ensemblId": "ENSG00000183695",
          "biotype": "protein_coding",
          "start": 19054455,
          "end": 19060717,
          "strand": "-",
          "slug": "mrgprx2"
        },
        {
          "symbol": "ZDHHC13",
          "ensemblId": "ENSG00000177054",
          "biotype": "protein_coding",
          "start": 19117099,
          "end": 19177712,
          "strand": "+",
          "slug": "zdhhc13"
        },
        {
          "symbol": "E2F8",
          "ensemblId": "ENSG00000129173",
          "biotype": "protein_coding",
          "start": 19223994,
          "end": 19241684,
          "strand": "-",
          "slug": "e2f8"
        },
        {
          "symbol": "NAV2",
          "ensemblId": "ENSG00000166833",
          "biotype": "protein_coding",
          "start": 19349903,
          "end": 20121601,
          "strand": "+",
          "slug": "nav2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "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": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hypertrophic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "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": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "endocardial-fibroelastosis",
        "name": "Endocardial fibroelastosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/endocardial-fibroelastosis"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "impaired-myocardial-contractility",
        "name": "Impaired myocardial contractility",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/impaired-myocardial-contractility"
      },
      {
        "slug": "increased-left-ventricular-end-diastolic-volume",
        "name": "Increased left ventricular end-diastolic volume",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-left-ventricular-end-diastolic-volume"
      },
      {
        "slug": "left-ventricular-systolic-dysfunction",
        "name": "Left ventricular systolic dysfunction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction"
      },
      {
        "slug": "lipoatrophy",
        "name": "Loss of fat tissue in localized area",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lipoatrophy"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "orthopnea",
        "name": "Orthopnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthopnea"
      },
      {
        "slug": "paroxysmal-atrial-fibrillation",
        "name": "Paroxysmal atrial fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paroxysmal-atrial-fibrillation"
      },
      {
        "slug": "reduced-left-ventricular-ejection-fraction",
        "name": "Reduced left ventricular ejection fraction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-left-ventricular-ejection-fraction"
      },
      {
        "slug": "reduced-left-ventricular-endsystolic-diameter",
        "name": "Reduced left ventricular endsystolic diameter",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-left-ventricular-endsystolic-diameter"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "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": "thromboembolic-stroke",
        "name": "Thromboembolic stroke",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thromboembolic-stroke"
      },
      {
        "slug": "ventricular-septal-hypertrophy",
        "name": "Ventricular septal hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventricular-septal-hypertrophy"
      },
      {
        "slug": "ventricular-tachycardia",
        "name": "Ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-tachycardia"
      }
    ],
    "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": "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"
      },
      {
        "slug": "etfdh",
        "symbol": "ETFDH",
        "name": "electron transfer flavoprotein dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/etfdh"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}