{
  "url": "https://dantelabs.com/hu/genes/cnga3",
  "gene": {
    "slug": "cnga3",
    "symbol": "CNGA3",
    "name": "cyclic nucleotide gated channel subunit alpha 3",
    "hgnc": "HGNC:2150",
    "summary": null,
    "location": "2q11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CCNC1",
      "CCNCa",
      "CNG3"
    ],
    "previousSymbols": [
      "CNCG3",
      "ACHM2"
    ],
    "ensemblId": "ENSG00000144191",
    "entrezId": 1261,
    "omim": [
      "600053"
    ],
    "uniprot": [
      "Q16281"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 98346456,
      "end": 98398601,
      "strand": "+",
      "ensemblTranscript": "ENST00000272602.7",
      "refseqTranscript": "NM_001298.3",
      "ensemblProtein": "ENSP00000272602.2",
      "refseqProtein": "NP_001289.1",
      "exons": [
        {
          "start": 98346456,
          "end": 98346534
        },
        {
          "start": 98369939,
          "end": 98370076
        },
        {
          "start": 98377687,
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        },
        {
          "start": 98380175,
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        },
        {
          "start": 98383388,
          "end": 98383441
        },
        {
          "start": 98389658,
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        },
        {
          "start": 98391864,
          "end": 98391970
        },
        {
          "start": 98395844,
          "end": 98398601
        }
      ],
      "cds": {
        "start": 98369976,
        "end": 98397255
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 98962618,
      "end": 99015064,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 97872529,
      "end": 98872528,
      "genes": [
        {
          "symbol": "TMEM131",
          "ensemblId": "ENSG00000075568",
          "biotype": "protein_coding",
          "start": 97756333,
          "end": 97996226,
          "strand": "-",
          "slug": "tmem131"
        },
        {
          "symbol": "VWA3B",
          "ensemblId": "ENSG00000168658",
          "biotype": "protein_coding",
          "start": 98087116,
          "end": 98313299,
          "strand": "+",
          "slug": "vwa3b"
        },
        {
          "symbol": "INPP4A",
          "ensemblId": "ENSG00000040933",
          "biotype": "protein_coding",
          "start": 98444246,
          "end": 98594392,
          "strand": "+",
          "slug": "inpp4a"
        },
        {
          "symbol": "COA5",
          "ensemblId": "ENSG00000183513",
          "biotype": "protein_coding",
          "start": 98598242,
          "end": 98608542,
          "strand": "-",
          "slug": "coa5"
        },
        {
          "symbol": "UNC50",
          "ensemblId": "ENSG00000115446",
          "biotype": "protein_coding",
          "start": 98608174,
          "end": 98618604,
          "strand": "+",
          "slug": "unc50"
        },
        {
          "symbol": "MGAT4A",
          "ensemblId": "ENSG00000071073",
          "biotype": "protein_coding",
          "start": 98619106,
          "end": 98732639,
          "strand": "-",
          "slug": "mgat4a"
        },
        {
          "symbol": "CRACDL",
          "ensemblId": "ENSG00000196872",
          "biotype": "protein_coding",
          "start": 98793845,
          "end": 98936628,
          "strand": "-",
          "slug": "cracdl"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "achromatopsia",
        "name": "Achromatopsia",
        "diseases": [
          {
            "mondoId": "MONDO:0800102",
            "name": "CNGA3-Related Retinopathy",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "A cone disorder caused by changes in both copies of CNGA3, a common cause of achromatopsia.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018852",
            "name": "Achromatopsia",
            "genes": 7,
            "inheritance": null,
            "description": "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/achromatopsia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "abnormal-full-field-electroretinogram",
        "name": "Abnormal full-field electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram"
      },
      {
        "slug": "abnormal-macular-morphology",
        "name": "Abnormal macular morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-macular-morphology"
      },
      {
        "slug": "abnormal-pupillary-light-reflex",
        "name": "Abnormal pupillary light reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pupillary-light-reflex"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormality-of-refraction",
        "name": "Abnormality of refraction",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-refraction"
      },
      {
        "slug": "absent-foveal-reflex",
        "name": "Absent foveal reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-foveal-reflex"
      },
      {
        "slug": "achromatopsia",
        "name": "Achromatopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/achromatopsia"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "slug": "color-vision-test-abnormality",
        "name": "Color vision test abnormality",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/color-vision-test-abnormality"
      },
      {
        "slug": "hemeralopia",
        "name": "Day blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hemeralopia"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "dull-foveal-reflex",
        "name": "Dull foveal reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dull-foveal-reflex"
      },
      {
        "slug": "eccentric-visual-fixation",
        "name": "Eccentric visual fixation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eccentric-visual-fixation"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "inner-retinal-layer-loss-on-macular-oct",
        "name": "Inner retinal layer loss on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/inner-retinal-layer-loss-on-macular-oct"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "metamorphopsia",
        "name": "Metamorphopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metamorphopsia"
      },
      {
        "slug": "myopic-astigmatism",
        "name": "Myopic astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myopic-astigmatism"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "pendular-nystagmus",
        "name": "Pendular nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pendular-nystagmus"
      },
      {
        "slug": "peripapillary-atrophy",
        "name": "Peripapillary atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripapillary-atrophy"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "retinal-pigment-epithelial-atrophy",
        "name": "Retinal pigment epithelial atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-atrophy"
      },
      {
        "slug": "retinal-pigment-epithelial-mottling",
        "name": "Retinal pigment epithelial mottling",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-mottling"
      },
      {
        "slug": "retinal-thinning-on-oct",
        "name": "Retinal thinning",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-thinning-on-oct"
      },
      {
        "slug": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "monochromacy",
        "name": "Total colorblindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/monochromacy"
      },
      {
        "slug": "undetectable-light-adapted-electroretinogram",
        "name": "Undetectable light-adapted electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/undetectable-light-adapted-electroretinogram"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "atf6",
        "symbol": "ATF6",
        "name": "activating transcription factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atf6"
      },
      {
        "slug": "cngb3",
        "symbol": "CNGB3",
        "name": "cyclic nucleotide gated channel subunit beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cngb3"
      },
      {
        "slug": "gnat2",
        "symbol": "GNAT2",
        "name": "G protein subunit alpha transducin 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gnat2"
      },
      {
        "slug": "opn1lw",
        "symbol": "OPN1LW",
        "name": "opsin 1, long wave sensitive",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/opn1lw"
      },
      {
        "slug": "opn1mw",
        "symbol": "OPN1MW",
        "name": "opsin 1, medium wave sensitive",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/opn1mw"
      },
      {
        "slug": "pde6h",
        "symbol": "PDE6H",
        "name": "phosphodiesterase 6H",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pde6h"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}