{
  "url": "https://dantelabs.com/pt/genes/cyp1b1",
  "gene": {
    "slug": "cyp1b1",
    "symbol": "CYP1B1",
    "name": "cytochrome P450 family 1 subfamily B member 1",
    "hgnc": "HGNC:2597",
    "summary": null,
    "location": "2p22.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CP1B"
    ],
    "previousSymbols": [
      "GLC3A"
    ],
    "ensemblId": "ENSG00000138061",
    "entrezId": 1545,
    "omim": [
      "601771"
    ],
    "uniprot": [
      "Q16678"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 38067509,
      "end": 38076151,
      "strand": "-",
      "ensemblTranscript": "ENST00000610745.5",
      "refseqTranscript": "NM_000104.4",
      "ensemblProtein": "ENSP00000478561.1",
      "refseqProtein": "NP_000095.2",
      "exons": [
        {
          "start": 38067509,
          "end": 38071310
        },
        {
          "start": 38074346,
          "end": 38075389
        },
        {
          "start": 38075780,
          "end": 38076151
        }
      ],
      "cds": {
        "start": 38070722,
        "end": 38075388
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 38294116,
      "end": 38337044,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 37571830,
      "end": 38571829,
      "genes": [
        {
          "symbol": "CDC42EP3",
          "ensemblId": "ENSG00000163171",
          "biotype": "protein_coding",
          "start": 37641882,
          "end": 37738468,
          "strand": "-",
          "slug": "cdc42ep3"
        },
        {
          "symbol": "RMDN2",
          "ensemblId": "ENSG00000115841",
          "biotype": "protein_coding",
          "start": 37923187,
          "end": 38067142,
          "strand": "+",
          "slug": "rmdn2"
        },
        {
          "symbol": "ATL2",
          "ensemblId": "ENSG00000119787",
          "biotype": "protein_coding",
          "start": 38293942,
          "end": 38377438,
          "strand": "-",
          "slug": "atl2"
        },
        {
          "symbol": "HNRNPLL",
          "ensemblId": "ENSG00000143889",
          "biotype": "protein_coding",
          "start": 38561891,
          "end": 38603586,
          "strand": "-",
          "slug": "hnrnpll"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "diseases": [
          {
            "mondoId": "MONDO:0005041",
            "name": "Glaucoma",
            "genes": 8,
            "inheritance": null,
            "description": "Aumento da pressão no interior do globo ocular devido à obstrução da drenagem do humor aquoso.",
            "management": "Gotas para reduzir a PIO (análogos das prostaglandinas, betabloqueantes); trabeculoplastia seletiva a laser; cirurgia MIGS; trabeculotomia/goniotomia para o glaucoma congénito; rastreio genético em cascata familiar; monitorização anual da PIO nos portadores",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/glaucoma"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-anterior-chamber-morphology",
        "name": "Abnormal anterior chamber morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-anterior-chamber-morphology"
      },
      {
        "slug": "abnormal-descemet-membrane-morphology",
        "name": "Abnormal Descemet membrane morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-descemet-membrane-morphology"
      },
      {
        "slug": "abnormality-iris-morphology",
        "name": "Abnormality of the iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-iris-morphology"
      },
      {
        "slug": "anisometropia",
        "name": "Anisometropia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anisometropia"
      },
      {
        "slug": "anterior-synechiae-of-the-anterior-chamber",
        "name": "Anterior synechiae of the anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anterior-synechiae-of-the-anterior-chamber"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "central-opacification-of-the-cornea",
        "name": "Central opacification of the cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/central-opacification-of-the-cornea"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "corneal-stromal-edema",
        "name": "Corneal stromal edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-stromal-edema"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "deep-anterior-chamber",
        "name": "Deep anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/deep-anterior-chamber"
      },
      {
        "slug": "developmental-glaucoma",
        "name": "Developmental glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-glaucoma"
      },
      {
        "slug": "megalocornea",
        "name": "Enlarged cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/megalocornea"
      },
      {
        "slug": "buphthalmos",
        "name": "Enlarged eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/buphthalmos"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "blepharospasm",
        "name": "Eyelid spasm",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blepharospasm"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "glaucomatous-visual-field-defect",
        "name": "Glaucomatous visual field defect",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucomatous-visual-field-defect"
      },
      {
        "slug": "ocular-hypertension",
        "name": "High eye pressure",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ocular-hypertension"
      },
      {
        "slug": "increased-cup-to-disc-ratio",
        "name": "Increased cup-to-disc ratio",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-cup-to-disc-ratio"
      },
      {
        "slug": "epiphora",
        "name": "Increased tears",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epiphora"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "iridodonesis",
        "name": "Iridodonesis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iridodonesis"
      },
      {
        "slug": "iris-atrophy",
        "name": "Iris degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-atrophy"
      },
      {
        "slug": "late-onset-congenital-glaucoma",
        "name": "Late onset congenital glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/late-onset-congenital-glaucoma"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "peripheral-visual-field-loss",
        "name": "Loss of peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-visual-field-loss"
      },
      {
        "slug": "corneal-neovascularization",
        "name": "New blood vessel formation in cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/corneal-neovascularization"
      },
      {
        "slug": "opacification-of-the-corneal-stroma",
        "name": "Opacification of the corneal stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma"
      },
      {
        "slug": "open-angle-glaucoma",
        "name": "Open angle glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/open-angle-glaucoma"
      },
      {
        "slug": "abnormal-optic-nerve-morphology",
        "name": "Optic nerve issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-optic-nerve-morphology"
      },
      {
        "slug": "peters-anomaly",
        "name": "Peters anomaly",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peters-anomaly"
      },
      {
        "slug": "posterior-synechiae-of-the-anterior-chamber",
        "name": "Posterior synechiae of the anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/posterior-synechiae-of-the-anterior-chamber"
      },
      {
        "slug": "primary-congenital-glaucoma",
        "name": "Primary congenital glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/primary-congenital-glaucoma"
      },
      {
        "slug": "reduced-anterior-scleral-thickness",
        "name": "Reduced anterior scleral thickness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-anterior-scleral-thickness"
      },
      {
        "slug": "retinal-arterial-occlusion",
        "name": "Retinal arterial occlusion",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinal-arterial-occlusion"
      },
      {
        "slug": "retinal-venous-occlusion",
        "name": "Retinal venous occlusion",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinal-venous-occlusion"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "subcapsular-cataract",
        "name": "Subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subcapsular-cataract"
      },
      {
        "slug": "temporal-optic-disc-pallor",
        "name": "Temporal optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/temporal-optic-disc-pallor"
      },
      {
        "slug": "thinning-of-descemet-membrane",
        "name": "Thinning of Descemet membrane",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thinning-of-descemet-membrane"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "efemp1",
        "symbol": "EFEMP1",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/efemp1"
      },
      {
        "slug": "foxc1",
        "symbol": "FOXC1",
        "name": "forkhead box C1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/foxc1"
      },
      {
        "slug": "ltbp2",
        "symbol": "LTBP2",
        "name": "latent transforming growth factor beta binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/ltbp2"
      },
      {
        "slug": "myoc",
        "symbol": "MYOC",
        "name": "myocilin",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/myoc"
      },
      {
        "slug": "optn",
        "symbol": "OPTN",
        "name": "optineurin",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/optn"
      },
      {
        "slug": "tek",
        "symbol": "TEK",
        "name": "TEK receptor tyrosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/tek"
      },
      {
        "slug": "thbs1",
        "symbol": "THBS1",
        "name": "thrombospondin 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/thbs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 36,
    "url": "https://dantelabs.com/genes/cyp1b1/variants",
    "items": [
      {
        "slug": "a106d",
        "name": "A106D",
        "commonName": null,
        "symbol": "CYP1B1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.317C>A",
        "position": 38075072,
        "grch37Position": 38302215,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/cyp1b1/variants/a106d"
      },
      {
        "slug": "a179rfs18",
        "name": "A179Rfs*18",
        "commonName": null,
        "symbol": "CYP1B1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.535del",
        "position": 38074853,
        "grch37Position": 38301996,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/cyp1b1/variants/a179rfs18"
      },
      {
        "slug": "a237e",
        "name": "A237E",
        "commonName": null,
        "symbol": "CYP1B1",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.710C>A",
        "position": 38074679,
        "grch37Position": 38301822,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/cyp1b1/variants/a237e"
      },
      {
        "slug": "a330f",
        "name": "A330F",
        "commonName": null,
        "symbol": "CYP1B1",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.988_989delinsTT",
        "position": 38074400,
        "grch37Position": 38301543,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/cyp1b1/variants/a330f"
      },
      {
        "slug": "c-2t-c",
        "name": "c.2T>C",
        "commonName": null,
        "symbol": "CYP1B1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 38075387,
        "grch37Position": 38302530,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/cyp1b1/variants/c-2t-c"
      },
      {
        "slug": "c-1044-1g-c",
        "name": "c.1044-1G>C",
        "commonName": null,
        "symbol": "CYP1B1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 38071311,
        "grch37Position": 38298454,
        "part": {
          "kind": "intron",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/cyp1b1/variants/c-1044-1g-c"
      },
      {
        "slug": "c-1044-2a-g",
        "name": "c.1044-2A>G",
        "commonName": null,
        "symbol": "CYP1B1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 38071312,
        "grch37Position": 38298455,
        "part": {
          "kind": "intron",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/cyp1b1/variants/c-1044-2a-g"
      },
      {
        "slug": "c470y",
        "name": "C470Y",
        "commonName": null,
        "symbol": "CYP1B1",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1409G>A",
        "position": 38070945,
        "grch37Position": 38298088,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/cyp1b1/variants/c470y"
      },
      {
        "slug": "d374n",
        "name": "D374N",
        "commonName": null,
        "symbol": "CYP1B1",
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