{
  "url": "https://dantelabs.com/ro/genes/rragc",
  "gene": {
    "slug": "rragc",
    "symbol": "RRAGC",
    "name": "Ras related GTP binding C",
    "hgnc": "HGNC:19902",
    "summary": null,
    "location": "1p34.3",
    "locusType": "gene with protein product",
    "aliases": [
      "GTR2",
      "FLJ13311"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000116954",
    "entrezId": 64121,
    "omim": [
      "608267"
    ],
    "uniprot": [
      "Q9HB90"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 38838198,
      "end": 38859772,
      "strand": "-",
      "ensemblTranscript": "ENST00000373001.4",
      "refseqTranscript": "NM_022157.4",
      "ensemblProtein": "ENSP00000362092.3",
      "refseqProtein": "NP_071440.1",
      "exons": [
        {
          "start": 38838198,
          "end": 38839704
        },
        {
          "start": 38845939,
          "end": 38846087
        },
        {
          "start": 38851615,
          "end": 38851757
        },
        {
          "start": 38852374,
          "end": 38852488
        },
        {
          "start": 38855708,
          "end": 38855907
        },
        {
          "start": 38856879,
          "end": 38857082
        },
        {
          "start": 38859410,
          "end": 38859772
        }
      ],
      "cds": {
        "start": 38839553,
        "end": 38859646
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 39303870,
      "end": 39325495,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 38348985,
      "end": 39348984,
      "genes": [
        {
          "symbol": "MYCBP",
          "ensemblId": "ENSG00000214114",
          "biotype": "protein_coding",
          "start": 38862356,
          "end": 38873388,
          "strand": "-",
          "slug": "mycbp"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000274944",
          "biotype": "protein_coding",
          "start": 38864501,
          "end": 38881617,
          "strand": "-"
        },
        {
          "symbol": "GJA9",
          "ensemblId": "ENSG00000131233",
          "biotype": "protein_coding",
          "start": 38874069,
          "end": 38881587,
          "strand": "-",
          "slug": "gja9"
        },
        {
          "symbol": "RHBDL2",
          "ensemblId": "ENSG00000158315",
          "biotype": "protein_coding",
          "start": 38885806,
          "end": 38941845,
          "strand": "-",
          "slug": "rhbdl2"
        },
        {
          "symbol": "AKIRIN1",
          "ensemblId": "ENSG00000174574",
          "biotype": "protein_coding",
          "start": 38991254,
          "end": 39007692,
          "strand": "+",
          "slug": "akirin1"
        },
        {
          "symbol": "NDUFS5",
          "ensemblId": "ENSG00000168653",
          "biotype": "protein_coding",
          "start": 39026318,
          "end": 39049718,
          "strand": "+",
          "slug": "ndufs5"
        },
        {
          "symbol": "MACF1",
          "ensemblId": "ENSG00000127603",
          "biotype": "protein_coding",
          "start": 39081316,
          "end": 39487755,
          "strand": "+",
          "slug": "macf1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "cavum-septum-pellucidum",
        "name": "Cavum septum pellucidum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cavum-septum-pellucidum"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "microspherophakia",
        "name": "Microspherophakia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microspherophakia"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "nonimmune-hydrops-fetalis",
        "name": "Nonimmune hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis"
      },
      {
        "slug": "optic-nerve-hypoplasia",
        "name": "Optic nerve hypoplasia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia"
      },
      {
        "slug": "premature-rupture-of-membranes",
        "name": "Premature rupture of membranes",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-rupture-of-membranes"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "secundum-atrial-septal-defect",
        "name": "Secundum atrial septal defect",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/secundum-atrial-septal-defect"
      },
      {
        "slug": "severely-reduced-left-ventricular-ejection-fraction",
        "name": "Severely reduced left ventricular ejection fraction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severely-reduced-left-ventricular-ejection-fraction"
      },
      {
        "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": "subependymal-cysts",
        "name": "Subependymal cysts",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subependymal-cysts"
      },
      {
        "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": []
  }
}