{
  "url": "https://dantelabs.com/pt/genes/lrrc8a",
  "gene": {
    "slug": "lrrc8a",
    "symbol": "LRRC8A",
    "name": "leucine rich repeat containing 8 VRAC subunit A",
    "hgnc": "HGNC:19027",
    "summary": null,
    "location": "9q34.11",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA1437",
      "FLJ10337",
      "SWELL1"
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    "previousSymbols": [
      "LRRC8"
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    "ensemblId": "ENSG00000136802",
    "entrezId": 56262,
    "omim": [
      "608360"
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    "uniprot": [
      "Q8IWT6"
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 128882133,
      "end": 128918039,
      "strand": "+",
      "ensemblTranscript": "ENST00000372600.9",
      "refseqTranscript": "NM_019594.4",
      "ensemblProtein": "ENSP00000361682.4",
      "refseqProtein": "NP_062540.2",
      "exons": [
        {
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          "end": 128882250
        },
        {
          "start": 128886015,
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        },
        {
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        {
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      ],
      "cds": {
        "start": 128907165,
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      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
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      "end": 131680318,
      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "CERCAM",
          "ensemblId": "ENSG00000167123",
          "biotype": "protein_coding",
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          "end": 128437362,
          "strand": "+",
          "slug": "cercam"
        },
        {
          "symbol": "ODF2",
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          "biotype": "protein_coding",
          "start": 128455181,
          "end": 128502162,
          "strand": "+",
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        },
        {
          "symbol": "GLE1",
          "ensemblId": "ENSG00000119392",
          "biotype": "protein_coding",
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          "end": 128543874,
          "strand": "+",
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        },
        {
          "symbol": "SPTAN1",
          "ensemblId": "ENSG00000197694",
          "biotype": "protein_coding",
          "start": 128552558,
          "end": 128633663,
          "strand": "+",
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        },
        {
          "symbol": "DYNC2I2",
          "ensemblId": "ENSG00000119333",
          "biotype": "protein_coding",
          "start": 128633646,
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          "strand": "-",
          "slug": "dync2i2"
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        {
          "symbol": "SET",
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          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "PKN3",
          "ensemblId": "ENSG00000160447",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "ZDHHC12",
          "ensemblId": "ENSG00000160446",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "zdhhc12"
        },
        {
          "symbol": "ZER1",
          "ensemblId": "ENSG00000160445",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "zer1"
        },
        {
          "symbol": "TBC1D13",
          "ensemblId": "ENSG00000107021",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "ENDOG",
          "ensemblId": "ENSG00000167136",
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        {
          "symbol": "SPOUT1",
          "ensemblId": "ENSG00000198917",
          "biotype": "protein_coding",
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        {
          "symbol": "KYAT1",
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        {
          "symbol": "KYAT1",
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        {
          "symbol": "PHYHD1",
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          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000251184",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "DOLK",
          "ensemblId": "ENSG00000175283",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "dolk"
        },
        {
          "symbol": "NUP188",
          "ensemblId": "ENSG00000095319",
          "biotype": "protein_coding",
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          "slug": "nup188"
        },
        {
          "symbol": "SH3GLB2",
          "ensemblId": "ENSG00000148341",
          "biotype": "protein_coding",
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          "slug": "sh3glb2"
        },
        {
          "symbol": "MIGA2",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "miga2"
        },
        {
          "symbol": "DOLPP1",
          "ensemblId": "ENSG00000167130",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "dolpp1"
        },
        {
          "symbol": "CRAT",
          "ensemblId": "ENSG00000095321",
          "biotype": "protein_coding",
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          "end": 129111313,
          "strand": "-",
          "slug": "crat"
        },
        {
          "symbol": "PTPA",
          "ensemblId": "ENSG00000119383",
          "biotype": "protein_coding",
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          "end": 129148946,
          "strand": "+",
          "slug": "ptpa"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000235007",
          "biotype": "protein_coding",
          "start": 129139413,
          "end": 129260575,
          "strand": "+"
        },
        {
          "symbol": "IER5L",
          "ensemblId": "ENSG00000188483",
          "biotype": "protein_coding",
          "start": 129175552,
          "end": 129178261,
          "strand": "-",
          "slug": "ier5l"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "agammaglobulinemia",
        "name": "Agammaglobulinemia",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/agammaglobulinemia"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "chronic-otitis-media",
        "name": "Chronic infections of the middle ear",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chronic-otitis-media"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "conjunctivitis",
        "name": "Pink eye",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conjunctivitis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "sinusitis",
        "name": "Sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sinusitis"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "verrucae",
        "name": "Warts",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/verrucae"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}