{
  "url": "https://dantelabs.com/hu/genes/gnat1",
  "gene": {
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    "symbol": "GNAT1",
    "name": "G protein subunit alpha transducin 1",
    "hgnc": "HGNC:4393",
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    "location": "3p21.31",
    "locusType": "gene with protein product",
    "aliases": [
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    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000114349",
    "entrezId": 2779,
    "omim": [
      "139330"
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    "uniprot": [
      "P11488"
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      "release": "v1.5",
      "chrom": "3",
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      "strand": "+",
      "ensemblTranscript": "ENST00000232461.8",
      "refseqTranscript": "NM_144499.3",
      "ensemblProtein": "ENSP00000232461.3",
      "refseqProtein": "NP_653082.1",
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    },
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      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
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      "strand": "+"
    },
    "neighbourhood": {
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        {
          "symbol": "RNF123",
          "ensemblId": "ENSG00000164068",
          "biotype": "protein_coding",
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          "end": 49723389,
          "strand": "+",
          "slug": "rnf123"
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        {
          "symbol": "AMIGO3",
          "ensemblId": "ENSG00000176020",
          "biotype": "protein_coding",
          "start": 49716829,
          "end": 49719684,
          "strand": "-",
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        },
        {
          "symbol": "GMPPB",
          "ensemblId": "ENSG00000173540",
          "biotype": "protein_coding",
          "start": 49716844,
          "end": 49723988,
          "strand": "-",
          "slug": "gmppb"
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        {
          "symbol": "IP6K1",
          "ensemblId": "ENSG00000176095",
          "biotype": "protein_coding",
          "start": 49724294,
          "end": 49786557,
          "strand": "-",
          "slug": "ip6k1"
        },
        {
          "symbol": "CDHR4",
          "ensemblId": "ENSG00000187492",
          "biotype": "protein_coding",
          "start": 49790732,
          "end": 49799879,
          "strand": "-",
          "slug": "cdhr4"
        },
        {
          "symbol": "INKA1",
          "ensemblId": "ENSG00000185614",
          "biotype": "protein_coding",
          "start": 49803228,
          "end": 49805237,
          "strand": "+",
          "slug": "inka1"
        },
        {
          "symbol": "UBA7",
          "ensemblId": "ENSG00000182179",
          "biotype": "protein_coding",
          "start": 49805205,
          "end": 49814151,
          "strand": "-",
          "slug": "uba7"
        },
        {
          "symbol": "TRAIP",
          "ensemblId": "ENSG00000183763",
          "biotype": "protein_coding",
          "start": 49828595,
          "end": 49856597,
          "strand": "-",
          "slug": "traip"
        },
        {
          "symbol": "CAMKV",
          "ensemblId": "ENSG00000164076",
          "biotype": "protein_coding",
          "start": 49857214,
          "end": 49870064,
          "strand": "-",
          "slug": "camkv"
        },
        {
          "symbol": "MST1R",
          "ensemblId": "ENSG00000164078",
          "biotype": "protein_coding",
          "start": 49886902,
          "end": 49906130,
          "strand": "-",
          "slug": "mst1r"
        },
        {
          "symbol": "MON1A",
          "ensemblId": "ENSG00000164077",
          "biotype": "protein_coding",
          "start": 49907160,
          "end": 49930173,
          "strand": "-",
          "slug": "mon1a"
        },
        {
          "symbol": "RBM6",
          "ensemblId": "ENSG00000004534",
          "biotype": "protein_coding",
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          "end": 50100045,
          "strand": "+",
          "slug": "rbm6"
        },
        {
          "symbol": "RBM5",
          "ensemblId": "ENSG00000003756",
          "biotype": "protein_coding",
          "start": 50088898,
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          "strand": "+",
          "slug": "rbm5"
        },
        {
          "symbol": "SEMA3F",
          "ensemblId": "ENSG00000001617",
          "biotype": "protein_coding",
          "start": 50155012,
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          "strand": "+",
          "slug": "sema3f"
        },
        {
          "symbol": "SLC38A3",
          "ensemblId": "ENSG00000188338",
          "biotype": "protein_coding",
          "start": 50202871,
          "end": 50221504,
          "strand": "+",
          "slug": "slc38a3"
        },
        {
          "symbol": "GNAI2",
          "ensemblId": "ENSG00000114353",
          "biotype": "protein_coding",
          "start": 50226292,
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          "strand": "+",
          "slug": "gnai2"
        },
        {
          "symbol": "SEMA3B",
          "ensemblId": "ENSG00000012171",
          "biotype": "protein_coding",
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          "slug": "sema3b"
        },
        {
          "symbol": "LSMEM2",
          "ensemblId": "ENSG00000179564",
          "biotype": "protein_coding",
          "start": 50279030,
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          "strand": "+",
          "slug": "lsmem2"
        },
        {
          "symbol": "IFRD2",
          "ensemblId": "ENSG00000214706",
          "biotype": "protein_coding",
          "start": 50286003,
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          "strand": "-",
          "slug": "ifrd2"
        },
        {
          "symbol": "HYAL3",
          "ensemblId": "ENSG00000186792",
          "biotype": "protein_coding",
          "start": 50292830,
          "end": 50299437,
          "strand": "-",
          "slug": "hyal3"
        },
        {
          "symbol": "NAA80",
          "ensemblId": "ENSG00000243477",
          "biotype": "protein_coding",
          "start": 50296402,
          "end": 50299437,
          "strand": "-",
          "slug": "naa80"
        },
        {
          "symbol": "HYAL1",
          "ensemblId": "ENSG00000114378",
          "biotype": "protein_coding",
          "start": 50299883,
          "end": 50312890,
          "strand": "-",
          "slug": "hyal1"
        },
        {
          "symbol": "HYAL2",
          "ensemblId": "ENSG00000068001",
          "biotype": "protein_coding",
          "start": 50313396,
          "end": 50324687,
          "strand": "-",
          "slug": "hyal2"
        },
        {
          "symbol": "TUSC2",
          "ensemblId": "ENSG00000114383",
          "biotype": "protein_coding",
          "start": 50320027,
          "end": 50328251,
          "strand": "-",
          "slug": "tusc2"
        },
        {
          "symbol": "RASSF1",
          "ensemblId": "ENSG00000068028",
          "biotype": "protein_coding",
          "start": 50329782,
          "end": 50340980,
          "strand": "-",
          "slug": "rassf1"
        },
        {
          "symbol": "ZMYND10",
          "ensemblId": "ENSG00000004838",
          "biotype": "protein_coding",
          "start": 50341110,
          "end": 50345746,
          "strand": "-",
          "slug": "zmynd10"
        },
        {
          "symbol": "NPRL2",
          "ensemblId": "ENSG00000114388",
          "biotype": "protein_coding",
          "start": 50347330,
          "end": 50350826,
          "strand": "-",
          "slug": "nprl2"
        },
        {
          "symbol": "CYB561D2",
          "ensemblId": "ENSG00000114395",
          "biotype": "protein_coding",
          "start": 50350834,
          "end": 50358460,
          "strand": "+",
          "slug": "cyb561d2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272104",
          "biotype": "protein_coding",
          "start": 50350892,
          "end": 50367923,
          "strand": "+"
        },
        {
          "symbol": "TMEM115",
          "ensemblId": "ENSG00000126062",
          "biotype": "protein_coding",
          "start": 50352820,
          "end": 50359566,
          "strand": "-",
          "slug": "tmem115"
        },
        {
          "symbol": "CACNA2D2",
          "ensemblId": "ENSG00000007402",
          "biotype": "protein_coding",
          "start": 50362613,
          "end": 50504244,
          "strand": "-",
          "slug": "cacna2d2"
        },
        {
          "symbol": "C3orf18",
          "ensemblId": "ENSG00000088543",
          "biotype": "protein_coding",
          "start": 50556409,
          "end": 50573568,
          "strand": "-",
          "slug": "c3orf18"
        },
        {
          "symbol": "HEMK1",
          "ensemblId": "ENSG00000114735",
          "biotype": "protein_coding",
          "start": 50567895,
          "end": 50596168,
          "strand": "+",
          "slug": "hemk1"
        },
        {
          "symbol": "CISH",
          "ensemblId": "ENSG00000114737",
          "biotype": "protein_coding",
          "start": 50606456,
          "end": 50611984,
          "strand": "-",
          "slug": "cish"
        },
        {
          "symbol": "MAPKAPK3",
          "ensemblId": "ENSG00000114738",
          "biotype": "protein_coding",
          "start": 50611487,
          "end": 50651017,
          "strand": "+",
          "slug": "mapkapk3"
        },
        {
          "symbol": "DOCK3",
          "ensemblId": "ENSG00000088538",
          "biotype": "protein_coding",
          "start": 50674875,
          "end": 51384198,
          "strand": "+",
          "slug": "dock3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-stationary-night-blindness",
        "name": "Congenital Stationary Night Blindness",
        "diseases": [
          {
            "mondoId": "MONDO:0016293",
            "name": "Congenital Stationary Night Blindness",
            "genes": 16,
            "inheritance": null,
            "description": "A group of mostly non-progressive retinal conditions, including Oguchi disease, caused by changes in genes such as NYX, CACNA1F, TRPM1, GRM6, GPR179 and SAG, often with nystagmus or short-sightedness.",
            "management": "A genetic diagnosis explains the symptoms, helps distinguish the condition from progressive retinal diseases and informs family counselling.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/congenital-stationary-night-blindness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "slug": "early-onset-non-progressive-night-blindness",
        "name": "Night blindness since birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/early-onset-non-progressive-night-blindness"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      }
    ],
    "related": [
      {
        "slug": "cabp4",
        "symbol": "CABP4",
        "name": "calcium binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cabp4"
      },
      {
        "slug": "cacna1f",
        "symbol": "CACNA1F",
        "name": "calcium voltage-gated channel subunit alpha1 F",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cacna1f"
      },
      {
        "slug": "gnb3",
        "symbol": "GNB3",
        "name": "G protein subunit beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gnb3"
      },
      {
        "slug": "gpr179",
        "symbol": "GPR179",
        "name": "G protein-coupled receptor 179",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gpr179"
      },
      {
        "slug": "grk1",
        "symbol": "GRK1",
        "name": "G protein-coupled receptor kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/grk1"
      },
      {
        "slug": "grm6",
        "symbol": "GRM6",
        "name": "glutamate metabotropic receptor 6",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/grm6"
      },
      {
        "slug": "gucy2d",
        "symbol": "GUCY2D",
        "name": "guanylate cyclase 2D, retinal",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gucy2d"
      },
      {
        "slug": "lrit3",
        "symbol": "LRIT3",
        "name": "leucine rich repeat, Ig-like and transmembrane domains 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/lrit3"
      },
      {
        "slug": "nyx",
        "symbol": "NYX",
        "name": "nyctalopin",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/nyx"
      },
      {
        "slug": "pde6b",
        "symbol": "PDE6B",
        "name": "phosphodiesterase 6B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pde6b"
      },
      {
        "slug": "rho",
        "symbol": "RHO",
        "name": "rhodopsin",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/rho"
      },
      {
        "slug": "rims2",
        "symbol": "RIMS2",
        "name": "regulating synaptic membrane exocytosis 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/rims2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}