{
  "url": "https://dantelabs.com/hu/genes/lrrc8c",
  "gene": {
    "slug": "lrrc8c",
    "symbol": "LRRC8C",
    "name": "leucine rich repeat containing 8 VRAC subunit C",
    "hgnc": "HGNC:25075",
    "summary": null,
    "location": "1p22.2",
    "locusType": "gene with protein product",
    "aliases": [
      "AD158"
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    "previousSymbols": [],
    "ensemblId": "ENSG00000171488",
    "entrezId": 84230,
    "omim": [
      "612889"
    ],
    "uniprot": [
      "Q8TDW0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 89633120,
      "end": 89719533,
      "strand": "+",
      "ensemblTranscript": "ENST00000370454.9",
      "refseqTranscript": "NM_032270.5",
      "ensemblProtein": "ENSP00000359483.4",
      "refseqProtein": "NP_115646.3",
      "exons": [
        {
          "start": 89633120,
          "end": 89633322
        },
        {
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        },
        {
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        }
      ],
      "cds": {
        "start": 89686474,
        "end": 89714982
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 90098631,
      "end": 90235462,
      "strand": "+"
    },
    "neighbourhood": {
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      "start": 89176327,
      "end": 90176326,
      "genes": [
        {
          "symbol": "GBP4",
          "ensemblId": "ENSG00000162654",
          "biotype": "protein_coding",
          "start": 89181144,
          "end": 89198953,
          "strand": "-",
          "slug": "gbp4"
        },
        {
          "symbol": "GBP5",
          "ensemblId": "ENSG00000154451",
          "biotype": "protein_coding",
          "start": 89256189,
          "end": 89272892,
          "strand": "-",
          "slug": "gbp5"
        },
        {
          "symbol": "GBP6",
          "ensemblId": "ENSG00000183347",
          "biotype": "protein_coding",
          "start": 89363895,
          "end": 89388160,
          "strand": "+",
          "slug": "gbp6"
        },
        {
          "symbol": "LRRC8B",
          "ensemblId": "ENSG00000197147",
          "biotype": "protein_coding",
          "start": 89524160,
          "end": 89597861,
          "strand": "+",
          "slug": "lrrc8b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288629",
          "biotype": "protein_coding",
          "start": 89579592,
          "end": 89579654,
          "strand": "+"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000271949",
          "biotype": "protein_coding",
          "start": 89633140,
          "end": 89933250,
          "strand": "+"
        },
        {
          "symbol": "LRRC8D",
          "ensemblId": "ENSG00000171492",
          "biotype": "protein_coding",
          "start": 89820973,
          "end": 89936611,
          "strand": "+",
          "slug": "lrrc8d"
        },
        {
          "symbol": "ZNF326",
          "ensemblId": "ENSG00000162664",
          "biotype": "protein_coding",
          "start": 89995110,
          "end": 90035548,
          "strand": "+",
          "slug": "znf326"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hypotelorism",
        "name": "Abnormally close eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotelorism"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "anal-atresia",
        "name": "Absent anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anal-atresia"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "corneal-epithelial-edema",
        "name": "Corneal epithelial edema",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-epithelial-edema"
      },
      {
        "slug": "cupped-ear",
        "name": "Cupped ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cupped-ear"
      },
      {
        "slug": "cutaneous-telangiectasia",
        "name": "Cutaneous telangiectasia",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cutaneous-telangiectasia"
      },
      {
        "slug": "cutis-marmorata",
        "name": "Cutis marmorata",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cutis-marmorata"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "entropion",
        "name": "Eyelid folded in",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/entropion"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "metaphyseal-dysplasia",
        "name": "Metaphyseal dysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-dysplasia"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "gastrointestinal-telangiectasia",
        "name": "Small, enlarged blood vessels near skin",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gastrointestinal-telangiectasia"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "2-3-toe-syndactyly",
        "name": "Webbed 2nd and 3rd toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/2-3-toe-syndactyly"
      },
      {
        "slug": "4-5-toe-syndactyly",
        "name": "Webbed 4th-5th toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/4-5-toe-syndactyly"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}