{
  "url": "https://dantelabs.com/fi/genes/rpl17",
  "gene": {
    "slug": "rpl17",
    "symbol": "RPL17",
    "name": "ribosomal protein L17",
    "hgnc": "HGNC:10307",
    "summary": null,
    "location": "18q21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "rpL23",
      "L17",
      "uL22"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000265681",
    "entrezId": 6139,
    "omim": [
      "603661"
    ],
    "uniprot": [
      "P18621"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 49488481,
      "end": 49492465,
      "strand": "-",
      "ensemblTranscript": "ENST00000580261.6",
      "refseqTranscript": "NM_001035006.5",
      "ensemblProtein": "ENSP00000462385.1",
      "refseqProtein": "NP_001030178.1",
      "exons": [
        {
          "start": 49488481,
          "end": 49488566
        },
        {
          "start": 49489359,
          "end": 49489550
        },
        {
          "start": 49490454,
          "end": 49490552
        },
        {
          "start": 49490793,
          "end": 49490927
        },
        {
          "start": 49491405,
          "end": 49491445
        },
        {
          "start": 49491532,
          "end": 49491584
        },
        {
          "start": 49492458,
          "end": 49492465
        }
      ],
      "cds": {
        "start": 49488519,
        "end": 49491571
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 47014851,
      "end": 47018906,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 48990473,
      "end": 49990472,
      "genes": [
        {
          "symbol": "DYM",
          "ensemblId": "ENSG00000141627",
          "biotype": "protein_coding",
          "start": 49036387,
          "end": 49461347,
          "strand": "-",
          "slug": "dym"
        },
        {
          "symbol": "C18orf32",
          "ensemblId": "ENSG00000177576",
          "biotype": "protein_coding",
          "start": 49477243,
          "end": 49487263,
          "strand": "-",
          "slug": "c18orf32"
        },
        {
          "symbol": "RPL17-C18orf32",
          "ensemblId": "ENSG00000215472",
          "biotype": "protein_coding",
          "start": 49481681,
          "end": 49492479,
          "strand": "-",
          "slug": "rpl17-c18orf32"
        },
        {
          "symbol": "LIPG",
          "ensemblId": "ENSG00000101670",
          "biotype": "protein_coding",
          "start": 49560699,
          "end": 49599185,
          "strand": "+",
          "slug": "lipg"
        },
        {
          "symbol": "ACAA2",
          "ensemblId": "ENSG00000167315",
          "biotype": "protein_coding",
          "start": 49781714,
          "end": 49813965,
          "strand": "-",
          "slug": "acaa2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000266997",
          "biotype": "protein_coding",
          "start": 49795793,
          "end": 49837623,
          "strand": "-"
        },
        {
          "symbol": "MYO5B",
          "ensemblId": "ENSG00000167306",
          "biotype": "protein_coding",
          "start": 49822789,
          "end": 50195208,
          "strand": "-",
          "slug": "myo5b"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "atresia-of-the-external-auditory-canal",
        "name": "Absent ear canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atresia-of-the-external-auditory-canal"
      },
      {
        "slug": "absent-thumb",
        "name": "Absent thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-thumb"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "leukemia",
        "name": "Blood cancer",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/leukemia"
      },
      {
        "slug": "bone-marrow-hypocellularity",
        "name": "Bone marrow failure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "clinodactyly-of-the-5th-toe",
        "name": "Clinodactyly of the 5th toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-toe"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "erythroid-dysplasia",
        "name": "Erythroid dysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythroid-dysplasia"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "thick-vermilion-border",
        "name": "Full lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thick-vermilion-border"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "increased-mean-corpuscular-volume",
        "name": "Increased mean corpuscular volume",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-mean-corpuscular-volume"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "interphalangeal-thumb-joint-contracture",
        "name": "Interphalangeal thumb joint contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/interphalangeal-thumb-joint-contracture"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "macrocytic-anemia",
        "name": "Macrocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocytic-anemia"
      },
      {
        "slug": "metacarpophalangeal-thumb-joint-contracture",
        "name": "Metacarpophalangeal thumb joint contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metacarpophalangeal-thumb-joint-contracture"
      },
      {
        "slug": "perineal-fistula",
        "name": "Perineal fistula",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/perineal-fistula"
      },
      {
        "slug": "pierre-robin-sequence",
        "name": "Pierre-Robin sequence",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pierre-robin-sequence"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "glossoptosis",
        "name": "Retraction of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glossoptosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-5th-finger",
        "name": "Short 5th finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-5th-finger"
      },
      {
        "slug": "short-chin",
        "name": "Short chin",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-chin"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-thumb",
        "name": "Short thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-thumb"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "submucous-cleft-palate",
        "name": "Submucous cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/submucous-cleft-palate"
      },
      {
        "slug": "talipes-varus",
        "name": "Talipes varus",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/talipes-varus"
      },
      {
        "slug": "thumb-hypoplasia-grade-4",
        "name": "Thumb hypoplasia grade 4",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thumb-hypoplasia-grade-4"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "wide-intermamillary-distance",
        "name": "Wide-spaced nipples",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-intermamillary-distance"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}