{
  "url": "https://dantelabs.com/de/genes/folr1",
  "gene": {
    "slug": "folr1",
    "symbol": "FOLR1",
    "name": "folate receptor alpha",
    "hgnc": "HGNC:3791",
    "summary": null,
    "location": "11q13.4",
    "locusType": "gene with protein product",
    "aliases": [
      "FRα"
    ],
    "previousSymbols": [
      "FOLR"
    ],
    "ensemblId": "ENSG00000110195",
    "entrezId": 2348,
    "omim": [
      "136430"
    ],
    "uniprot": [
      "P15328"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 72192140,
      "end": 72196299,
      "strand": "+",
      "ensemblTranscript": "ENST00000393676.5",
      "refseqTranscript": "NM_016729.3",
      "ensemblProtein": "ENSP00000377281.3",
      "refseqProtein": "NP_057941.1",
      "exons": [
        {
          "start": 72192140,
          "end": 72192341
        },
        {
          "start": 72195271,
          "end": 72195459
        },
        {
          "start": 72195612,
          "end": 72195747
        },
        {
          "start": 72195897,
          "end": 72196299
        }
      ],
      "cds": {
        "start": 72192174,
        "end": 72196177
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 71900602,
      "end": 71907345,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 71694220,
      "end": 72694219,
      "genes": [
        {
          "symbol": "XNDC1N-ZNF705EP-ALG1L9P",
          "ensemblId": "ENSG00000289716",
          "biotype": "protein_coding",
          "start": 71804997,
          "end": 71928656,
          "strand": "-",
          "slug": "xndc1n-znf705ep-alg1l9p"
        },
        {
          "symbol": "DEFB108B",
          "ensemblId": "ENSG00000184276",
          "biotype": "protein_coding",
          "start": 71833200,
          "end": 71837710,
          "strand": "+",
          "slug": "defb108b"
        },
        {
          "symbol": "XNDC1N",
          "ensemblId": "ENSG00000254469",
          "biotype": "protein_coding",
          "start": 71865504,
          "end": 71928917,
          "strand": "-",
          "slug": "xndc1n"
        },
        {
          "symbol": "DEFB131B",
          "ensemblId": "ENSG00000225805",
          "biotype": "protein_coding",
          "start": 71878453,
          "end": 71884561,
          "strand": "+",
          "slug": "defb131b"
        },
        {
          "symbol": "RNF121",
          "ensemblId": "ENSG00000137522",
          "biotype": "protein_coding",
          "start": 71929005,
          "end": 71997597,
          "strand": "+",
          "slug": "rnf121"
        },
        {
          "symbol": "IL18BP",
          "ensemblId": "ENSG00000137496",
          "biotype": "protein_coding",
          "start": 71998613,
          "end": 72007315,
          "strand": "+",
          "slug": "il18bp"
        },
        {
          "symbol": "NUMA1",
          "ensemblId": "ENSG00000137497",
          "biotype": "protein_coding",
          "start": 72002860,
          "end": 72080693,
          "strand": "-",
          "slug": "numa1"
        },
        {
          "symbol": "LRRC51",
          "ensemblId": "ENSG00000184154",
          "biotype": "protein_coding",
          "start": 72080286,
          "end": 72096895,
          "strand": "+",
          "slug": "lrrc51"
        },
        {
          "symbol": "LRTOMT",
          "ensemblId": "ENSG00000284922",
          "biotype": "protein_coding",
          "start": 72080331,
          "end": 72110782,
          "strand": "+",
          "slug": "lrtomt"
        },
        {
          "symbol": "LAMTOR1",
          "ensemblId": "ENSG00000149357",
          "biotype": "protein_coding",
          "start": 72085520,
          "end": 72103393,
          "strand": "-",
          "slug": "lamtor1"
        },
        {
          "symbol": "TOMT",
          "ensemblId": "ENSG00000284844",
          "biotype": "protein_coding",
          "start": 72103506,
          "end": 72111546,
          "strand": "+",
          "slug": "tomt"
        },
        {
          "symbol": "ANAPC15",
          "ensemblId": "ENSG00000110200",
          "biotype": "protein_coding",
          "start": 72106370,
          "end": 72113688,
          "strand": "-",
          "slug": "anapc15"
        },
        {
          "symbol": "FOLR3",
          "ensemblId": "ENSG00000110203",
          "biotype": "protein_coding",
          "start": 72114869,
          "end": 72141085,
          "strand": "+",
          "slug": "folr3"
        },
        {
          "symbol": "FOLR2",
          "ensemblId": "ENSG00000165457",
          "biotype": "protein_coding",
          "start": 72216601,
          "end": 72221957,
          "strand": "+",
          "slug": "folr2"
        },
        {
          "symbol": "INPPL1",
          "ensemblId": "ENSG00000165458",
          "biotype": "protein_coding",
          "start": 72223524,
          "end": 72239184,
          "strand": "+",
          "slug": "inppl1"
        },
        {
          "symbol": "PHOX2A",
          "ensemblId": "ENSG00000165462",
          "biotype": "protein_coding",
          "start": 72239077,
          "end": 72245664,
          "strand": "-",
          "slug": "phox2a"
        },
        {
          "symbol": "CLPB",
          "ensemblId": "ENSG00000162129",
          "biotype": "protein_coding",
          "start": 72285495,
          "end": 72434680,
          "strand": "-",
          "slug": "clpb"
        },
        {
          "symbol": "PDE2A",
          "ensemblId": "ENSG00000186642",
          "biotype": "protein_coding",
          "start": 72576141,
          "end": 72674591,
          "strand": "-",
          "slug": "pde2a"
        },
        {
          "symbol": "ARAP1",
          "ensemblId": "ENSG00000186635",
          "biotype": "protein_coding",
          "start": 72682436,
          "end": 72794047,
          "strand": "-",
          "slug": "arap1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "homocystinuria-and-cobalamin-disorders",
        "name": "Homocystinurie und Störungen des Kobalamin-Stoffwechsels",
        "diseases": [
          {
            "mondoId": "MONDO:0013110",
            "name": "Zerebraler Folat-Transportdefekt",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Verursacht durch Varianten in FOLR1, die verhindern, dass Folsäure das Gehirn erreicht. Dies kann in früher Kindheit zu Entwicklungsrückschritten, Bewegungsstörungen und Krampfanfällen führen.",
            "management": "Wenn Sie davon wissen, ist eine Behandlung mit Folinsäure möglich, die neurologische Symptome bei frühem Beginn verbessern oder verhindern kann.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/homocystinuria-and-cobalamin-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "neurodegeneration",
        "name": "Ongoing loss of nerve cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/neurodegeneration"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}