{
  "url": "https://dantelabs.com/fr/genes/rab5if",
  "gene": {
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    "symbol": "RAB5IF",
    "name": "RAB5 interacting factor",
    "hgnc": "HGNC:15870",
    "summary": null,
    "location": "20q11.23",
    "locusType": "gene with protein product",
    "aliases": [
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    "previousSymbols": [
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    "ensemblId": "ENSG00000101084",
    "entrezId": 55969,
    "omim": [
      "619960"
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    "uniprot": [
      "Q9BUV8"
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 36605779,
      "end": 36612557,
      "strand": "+",
      "ensemblTranscript": "ENST00000344795.8",
      "refseqTranscript": "NM_018840.5",
      "ensemblProtein": "ENSP00000340164.3",
      "refseqProtein": "NP_061328.1",
      "exons": [
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      "cds": {
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    },
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      "build": "GRCh37",
      "release": "87",
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      "end": 35240960,
      "strand": "+"
    },
    "neighbourhood": {
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          "end": 36232799,
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        {
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        {
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        {
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          "end": 36551950,
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          "slug": "myl9"
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        {
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        {
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        {
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        {
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        {
          "symbol": "MTCL2",
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        {
          "symbol": "TLDC2",
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        {
          "symbol": "SAMHD1",
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        {
          "symbol": "RBL1",
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        {
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      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "bilateral-cleft-lip",
        "name": "Both sided cleft lip",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-cleft-lip"
      },
      {
        "slug": "cavum-septum-pellucidum",
        "name": "Cavum septum pellucidum",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cavum-septum-pellucidum"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "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": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "shield-chest",
        "name": "Shield chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/shield-chest"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "thoracic-scoliosis",
        "name": "Thoracic scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thoracic-scoliosis"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}