{
  "url": "https://dantelabs.com/es/genes/opn1sw",
  "gene": {
    "slug": "opn1sw",
    "symbol": "OPN1SW",
    "name": "opsin 1, short wave sensitive",
    "hgnc": "HGNC:1012",
    "summary": null,
    "location": "7q32.1",
    "locusType": "gene with protein product",
    "aliases": [
      "BOP",
      "CBT"
    ],
    "previousSymbols": [
      "BCP"
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    "ensemblId": "ENSG00000128617",
    "entrezId": 611,
    "omim": [
      "613522"
    ],
    "uniprot": [
      "P03999"
    ],
    "model": {
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      "release": "v1.5",
      "chrom": "7",
      "start": 128772485,
      "end": 128775794,
      "strand": "-",
      "ensemblTranscript": "ENST00000249389.3",
      "refseqTranscript": "NM_001385125.1",
      "ensemblProtein": "ENSP00000249389.3",
      "refseqProtein": "NP_001372054.1",
      "exons": [
        {
          "start": 128772485,
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        },
        {
          "start": 128773649,
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        {
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      ],
      "cds": {
        "start": 128772540,
        "end": 128775781
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
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      "end": 128415844,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 128274140,
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      "genes": [
        {
          "symbol": "RBM28",
          "ensemblId": "ENSG00000106344",
          "biotype": "protein_coding",
          "start": 128278493,
          "end": 128343971,
          "strand": "-",
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        },
        {
          "symbol": "PRRT4",
          "ensemblId": "ENSG00000224940",
          "biotype": "protein_coding",
          "start": 128350325,
          "end": 128361940,
          "strand": "-",
          "slug": "prrt4"
        },
        {
          "symbol": "IMPDH1",
          "ensemblId": "ENSG00000106348",
          "biotype": "protein_coding",
          "start": 128392277,
          "end": 128410009,
          "strand": "-",
          "slug": "impdh1"
        },
        {
          "symbol": "HILPDA",
          "ensemblId": "ENSG00000135245",
          "biotype": "protein_coding",
          "start": 128455825,
          "end": 128458423,
          "strand": "+",
          "slug": "hilpda"
        },
        {
          "symbol": "METTL2B",
          "ensemblId": "ENSG00000165055",
          "biotype": "protein_coding",
          "start": 128476729,
          "end": 128506602,
          "strand": "+",
          "slug": "mettl2b"
        },
        {
          "symbol": "GARIN1A",
          "ensemblId": "ENSG00000205085",
          "biotype": "protein_coding",
          "start": 128671693,
          "end": 128687877,
          "strand": "+",
          "slug": "garin1a"
        },
        {
          "symbol": "GARIN1B",
          "ensemblId": "ENSG00000135248",
          "biotype": "protein_coding",
          "start": 128709061,
          "end": 128731743,
          "strand": "+",
          "slug": "garin1b"
        },
        {
          "symbol": "CALU",
          "ensemblId": "ENSG00000128595",
          "biotype": "protein_coding",
          "start": 128739292,
          "end": 128773400,
          "strand": "+",
          "slug": "calu"
        },
        {
          "symbol": "CCDC136",
          "ensemblId": "ENSG00000128596",
          "biotype": "protein_coding",
          "start": 128790750,
          "end": 128822135,
          "strand": "+",
          "slug": "ccdc136"
        },
        {
          "symbol": "FLNC",
          "ensemblId": "ENSG00000128591",
          "biotype": "protein_coding",
          "start": 128830292,
          "end": 128859275,
          "strand": "+",
          "slug": "flnc"
        },
        {
          "symbol": "KCP",
          "ensemblId": "ENSG00000135253",
          "biotype": "protein_coding",
          "start": 128862042,
          "end": 128910719,
          "strand": "-",
          "slug": "kcp"
        },
        {
          "symbol": "ATP6V1F",
          "ensemblId": "ENSG00000128524",
          "biotype": "protein_coding",
          "start": 128862816,
          "end": 128865849,
          "strand": "+",
          "slug": "atp6v1f"
        },
        {
          "symbol": "SPMIP1",
          "ensemblId": "ENSG00000272899",
          "biotype": "protein_coding",
          "start": 128866330,
          "end": 128872047,
          "strand": "+",
          "slug": "spmip1"
        },
        {
          "symbol": "IRF5",
          "ensemblId": "ENSG00000128604",
          "biotype": "protein_coding",
          "start": 128933429,
          "end": 128950389,
          "strand": "+",
          "slug": "irf5"
        },
        {
          "symbol": "TNPO3",
          "ensemblId": "ENSG00000064419",
          "biotype": "protein_coding",
          "start": 128954180,
          "end": 129055208,
          "strand": "-",
          "slug": "tnpo3"
        },
        {
          "symbol": "TSPAN33",
          "ensemblId": "ENSG00000158457",
          "biotype": "protein_coding",
          "start": 129144690,
          "end": 129177456,
          "strand": "+",
          "slug": "tspan33"
        },
        {
          "symbol": "SMO",
          "ensemblId": "ENSG00000128602",
          "biotype": "protein_coding",
          "start": 129188501,
          "end": 129213546,
          "strand": "+",
          "slug": "smo"
        },
        {
          "symbol": "AHCYL2",
          "ensemblId": "ENSG00000158467",
          "biotype": "protein_coding",
          "start": 129225020,
          "end": 129431841,
          "strand": "+",
          "slug": "ahcyl2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "colour-vision-deficiency",
        "name": "Daltonismo (deficiencia en la visión del color)",
        "diseases": [
          {
            "mondoId": "MONDO:0008610",
            "name": "Deficiencia en la visión del azul (tritanopía)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Una diferencia rara en la visión del color de carácter dominante, causada por cambios en OPN1SW, el gen del pigmento de los conos sensibles al azul.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/colour-vision-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "abnormal-light-adapted-electroretinogram",
        "name": "Abnormal light-adapted electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormal-light-adapted-electroretinogram"
      },
      {
        "slug": "tritanomaly",
        "name": "Blue yellow color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tritanomaly"
      },
      {
        "slug": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "slug": "color-vision-test-abnormality",
        "name": "Color vision test abnormality",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/color-vision-test-abnormality"
      },
      {
        "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": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "pendular-nystagmus",
        "name": "Pendular nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pendular-nystagmus"
      },
      {
        "slug": "abnormal-retinal-morphology",
        "name": "Retina issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-morphology"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}