{
  "url": "https://dantelabs.com/no/genes/cyp24a1",
  "gene": {
    "slug": "cyp24a1",
    "symbol": "CYP24A1",
    "name": "cytochrome P450 family 24 subfamily A member 1",
    "hgnc": "HGNC:2602",
    "summary": null,
    "location": "20q13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CP24",
      "P450-CC24",
      "lncBCAS1-4_1"
    ],
    "previousSymbols": [
      "CYP24"
    ],
    "ensemblId": "ENSG00000019186",
    "entrezId": 1591,
    "omim": [
      "126065"
    ],
    "uniprot": [
      "Q07973"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 54153446,
      "end": 54173986,
      "strand": "-",
      "ensemblTranscript": "ENST00000216862.8",
      "refseqTranscript": "NM_000782.5",
      "ensemblProtein": "ENSP00000216862.3",
      "refseqProtein": "NP_000773.2",
      "exons": [
        {
          "start": 54153446,
          "end": 54154761
        },
        {
          "start": 54157169,
          "end": 54157289
        },
        {
          "start": 54157388,
          "end": 54157585
        },
        {
          "start": 54158086,
          "end": 54158164
        },
        {
          "start": 54158957,
          "end": 54159123
        },
        {
          "start": 54162717,
          "end": 54162862
        },
        {
          "start": 54164452,
          "end": 54164563
        },
        {
          "start": 54165742,
          "end": 54165833
        },
        {
          "start": 54169592,
          "end": 54169688
        },
        {
          "start": 54171577,
          "end": 54171670
        },
        {
          "start": 54172909,
          "end": 54173099
        },
        {
          "start": 54173322,
          "end": 54173986
        }
      ],
      "cds": {
        "start": 54157179,
        "end": 54173579
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 52769988,
      "end": 52790512,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 53663716,
      "end": 54663715,
      "genes": [
        {
          "symbol": "BCAS1",
          "ensemblId": "ENSG00000064787",
          "biotype": "protein_coding",
          "start": 53936777,
          "end": 54070675,
          "strand": "-",
          "slug": "bcas1"
        },
        {
          "symbol": "PFDN4",
          "ensemblId": "ENSG00000101132",
          "biotype": "protein_coding",
          "start": 54207817,
          "end": 54228052,
          "strand": "+",
          "slug": "pfdn4"
        },
        {
          "symbol": "DOK5",
          "ensemblId": "ENSG00000101134",
          "biotype": "protein_coding",
          "start": 54475459,
          "end": 54651171,
          "strand": "+",
          "slug": "dok5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hypercalcemia-infantile",
        "name": "Infantil hyperkalsemi",
        "diseases": [
          {
            "mondoId": "MONDO:0000212",
            "name": "Hyperkalsemi, infantil",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "En hyperkalsemisykdom som oppstår mellom 28 dager og ett års alder.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/hypercalcemia-infantile"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-circulating-parathyroid-hormone-level",
        "name": "Decreased circulating parathyroid hormone level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-parathyroid-hormone-level"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "hypercalciuria",
        "name": "Elevated urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercalciuria"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "hypercalcemia",
        "name": "High blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercalcemia"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "medullary-nephrocalcinosis",
        "name": "Medullary nephrocalcinosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/medullary-nephrocalcinosis"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "slc34a1",
        "symbol": "SLC34A1",
        "name": "solute carrier family 34 member 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/slc34a1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}