{
  "url": "https://dantelabs.com/hu/genes/mtrr",
  "gene": {
    "slug": "mtrr",
    "symbol": "MTRR",
    "name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase",
    "hgnc": "HGNC:7473",
    "summary": null,
    "location": "5p15.31",
    "locusType": "gene with protein product",
    "aliases": [
      "cblE"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000124275",
    "entrezId": 4552,
    "omim": [
      "602568"
    ],
    "uniprot": [
      "Q9UBK8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 7869148,
      "end": 7901113,
      "strand": "+",
      "ensemblTranscript": "ENST00000440940.7",
      "refseqTranscript": "NM_002454.3",
      "ensemblProtein": "ENSP00000402510.2",
      "refseqProtein": "NP_002445.2",
      "exons": [
        {
          "start": 7869148,
          "end": 7869215
        },
        {
          "start": 7870770,
          "end": 7870923
        },
        {
          "start": 7873373,
          "end": 7873526
        },
        {
          "start": 7875258,
          "end": 7875375
        },
        {
          "start": 7877944,
          "end": 7878322
        },
        {
          "start": 7883155,
          "end": 7883277
        },
        {
          "start": 7885701,
          "end": 7885854
        },
        {
          "start": 7886615,
          "end": 7886703
        },
        {
          "start": 7889095,
          "end": 7889275
        },
        {
          "start": 7891372,
          "end": 7891414
        },
        {
          "start": 7892727,
          "end": 7892913
        },
        {
          "start": 7895734,
          "end": 7895852
        },
        {
          "start": 7896864,
          "end": 7896956
        },
        {
          "start": 7897065,
          "end": 7897247
        },
        {
          "start": 7899914,
          "end": 7901113
        }
      ],
      "cds": {
        "start": 7870795,
        "end": 7900058
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 7851299,
      "end": 7906138,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 7385131,
      "end": 8385130,
      "genes": [
        {
          "symbol": "ADCY2",
          "ensemblId": "ENSG00000078295",
          "biotype": "protein_coding",
          "start": 7395681,
          "end": 7830638,
          "strand": "+",
          "slug": "adcy2"
        },
        {
          "symbol": "CFAP90",
          "ensemblId": "ENSG00000215217",
          "biotype": "protein_coding",
          "start": 7830378,
          "end": 7851677,
          "strand": "-",
          "slug": "cfap90"
        },
        {
          "symbol": "FASTKD3",
          "ensemblId": "ENSG00000124279",
          "biotype": "protein_coding",
          "start": 7858812,
          "end": 7869060,
          "strand": "-",
          "slug": "fastkd3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "homocystinuria-and-cobalamin-disorders",
        "name": "Homocystinuria & Cobalamin Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0004737",
            "name": "Homocystinuria",
            "genes": 10,
            "inheritance": "autosomal-recessive",
            "description": "Includes classic homocystinuria due to CBS deficiency, severe MTHFR deficiency and the combined and remethylation cobalamin disorders, which can cause lens dislocation, blood clots, skeletal changes, anaemia and developmental problems.",
            "management": "Knowing allows treatment with vitamin B6, B12, folate, betaine and diet as appropriate, which can prevent lens dislocation, thrombosis and other complications.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019220",
            "name": "Inborn Disorders of Cobalamin Metabolism and Transport",
            "genes": 15,
            "inheritance": "autosomal-recessive",
            "description": "Includes defects in vitamin B12 absorption and transport such as Imerslund-Gräsbeck syndrome (CUBN, AMN), intrinsic factor deficiency (CBLIF) and transcobalamin II deficiency (TCN2), as well as intracellular cobalamin processing defects, which can cause megaloblastic anaemia, nerve damage and failure to thrive.",
            "management": "Knowing allows lifelong vitamin B12 injections or other cobalamin treatment, which can prevent anaemia and neurological damage.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/homocystinuria-and-cobalamin-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormality-of-the-cardiovascular-system",
        "name": "Abnormality of the cardiovascular system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "abnormality-of-the-skeletal-system",
        "name": "Abnormality of the skeletal system",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "deep-venous-thrombosis",
        "name": "Blood clot in a deep vein",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/deep-venous-thrombosis"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-circulating-methylcobalamin-concentration",
        "name": "Decreased circulating methylcobalamin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-methylcobalamin-concentration"
      },
      {
        "slug": "decreased-methionine-synthase-activity",
        "name": "Decreased methionine synthase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-methionine-synthase-activity"
      },
      {
        "slug": "hypomethioninemia",
        "name": "Decreased plasma methionine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypomethioninemia"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-myelination",
        "name": "Delayed myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-myelination"
      },
      {
        "slug": "drowsiness",
        "name": "Drowsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/drowsiness"
      },
      {
        "slug": "hyperhomocystinemia",
        "name": "Elevated blood homocystine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperhomocystinemia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glomerulopathy",
        "name": "Glomerulopathy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glomerulopathy"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hemolytic-uremic-syndrome",
        "name": "Hemolytic-uremic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemolytic-uremic-syndrome"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "homocystinuria",
        "name": "High urine homocystine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/homocystinuria"
      },
      {
        "slug": "hyperkinetic-movements",
        "name": "Hyperactive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperkinetic-movements"
      },
      {
        "slug": "increased-mean-corpuscular-volume",
        "name": "Increased mean corpuscular volume",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-mean-corpuscular-volume"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "loss-of-consciousness",
        "name": "Loss of consciousness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-consciousness"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "lower-limb-hypertonia",
        "name": "Lower limb hypertonia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-limb-hypertonia"
      },
      {
        "slug": "macrocytic-anemia",
        "name": "Macrocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocytic-anemia"
      },
      {
        "slug": "megaloblastic-anemia",
        "name": "Megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/megaloblastic-anemia"
      },
      {
        "slug": "megaloblastic-bone-marrow",
        "name": "Megaloblastic bone marrow",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/megaloblastic-bone-marrow"
      },
      {
        "slug": "normocytic-anemia",
        "name": "Normocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/normocytic-anemia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "spinal-dysraphism",
        "name": "Spinal dysraphism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spinal-dysraphism"
      },
      {
        "slug": "thromboembolism",
        "name": "Thromboembolism",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thromboembolism"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "syndactyly",
        "name": "Webbed fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/syndactyly"
      },
      {
        "slug": "widened-subarachnoid-space",
        "name": "Widened subarachnoid space",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/widened-subarachnoid-space"
      }
    ],
    "related": [
      {
        "slug": "abcd4",
        "symbol": "ABCD4",
        "name": "ATP binding cassette subfamily D member 4",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/abcd4"
      },
      {
        "slug": "hcfc1",
        "symbol": "HCFC1",
        "name": "host cell factor C1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/hcfc1"
      },
      {
        "slug": "lmbrd1",
        "symbol": "LMBRD1",
        "name": "LMBR1 domain containing 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/lmbrd1"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "name": "metabolism of cobalamin associated C",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/mmachc"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "name": "metabolism of cobalamin associated D",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/mmadhc"
      },
      {
        "slug": "mtr",
        "symbol": "MTR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/mtr"
      },
      {
        "slug": "prdx1",
        "symbol": "PRDX1",
        "name": "peroxiredoxin 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/prdx1"
      },
      {
        "slug": "amn",
        "symbol": "AMN",
        "name": "amnion associated transmembrane protein",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/amn"
      },
      {
        "slug": "cblif",
        "symbol": "CBLIF",
        "name": "cobalamin binding intrinsic factor",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cblif"
      },
      {
        "slug": "cbs",
        "symbol": "CBS",
        "name": "cystathionine beta-synthase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cbs"
      },
      {
        "slug": "cd320",
        "symbol": "CD320",
        "name": "CD320 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cd320"
      },
      {
        "slug": "cubn",
        "symbol": "CUBN",
        "name": "cubilin",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cubn"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}