{
  "url": "https://dantelabs.com/pl/genes/agxt",
  "gene": {
    "slug": "agxt",
    "symbol": "AGXT",
    "name": "alanine--glyoxylate aminotransferase",
    "hgnc": "HGNC:341",
    "summary": null,
    "location": "2q37.3",
    "locusType": "gene with protein product",
    "aliases": [
      "AGXT1",
      "PH1",
      "AGT",
      "SPT",
      "AGT1",
      "TLH6",
      "Ser-PyrAT"
    ],
    "previousSymbols": [
      "SPAT"
    ],
    "ensemblId": "ENSG00000172482",
    "entrezId": 189,
    "omim": [
      "604285"
    ],
    "uniprot": [
      "P21549"
    ],
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      "release": "v1.5",
      "chrom": "2",
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      "end": 240880500,
      "strand": "+",
      "ensemblTranscript": "ENST00000307503.4",
      "refseqTranscript": "NM_000030.3",
      "ensemblProtein": "ENSP00000302620.3",
      "refseqProtein": "NP_000021.1",
      "exons": [
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        "end": 240878821
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
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      "end": 241819919,
      "strand": "+"
    },
    "neighbourhood": {
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      "end": 241374661,
      "genes": [
        {
          "symbol": "GPC1",
          "ensemblId": "ENSG00000063660",
          "biotype": "protein_coding",
          "start": 240435434,
          "end": 240468115,
          "strand": "+",
          "slug": "gpc1"
        },
        {
          "symbol": "ANKMY1",
          "ensemblId": "ENSG00000144504",
          "biotype": "protein_coding",
          "start": 240479422,
          "end": 240569209,
          "strand": "-",
          "slug": "ankmy1"
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        {
          "symbol": "DUSP28",
          "ensemblId": "ENSG00000188542",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "RNPEPL1",
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          "strand": "+",
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        {
          "symbol": "CAPN10",
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          "end": 240618845,
          "strand": "+",
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        },
        {
          "symbol": "GPR35",
          "ensemblId": "ENSG00000178623",
          "biotype": "protein_coding",
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          "end": 240633159,
          "strand": "+",
          "slug": "gpr35"
        },
        {
          "symbol": "AQP12B",
          "ensemblId": "ENSG00000185176",
          "biotype": "protein_coding",
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          "end": 240682906,
          "strand": "-",
          "slug": "aqp12b"
        },
        {
          "symbol": "AQP12A",
          "ensemblId": "ENSG00000184945",
          "biotype": "protein_coding",
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          "end": 240698483,
          "strand": "+",
          "slug": "aqp12a"
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        {
          "symbol": "KIF1A",
          "ensemblId": "ENSG00000130294",
          "biotype": "protein_coding",
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          "end": 240824320,
          "strand": "-",
          "slug": "kif1a"
        },
        {
          "symbol": "MAB21L4",
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          "biotype": "protein_coding",
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          "end": 240896894,
          "strand": "-",
          "slug": "mab21l4"
        },
        {
          "symbol": "CROCC2",
          "ensemblId": "ENSG00000226321",
          "biotype": "protein_coding",
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          "end": 240993311,
          "strand": "+",
          "slug": "crocc2"
        },
        {
          "symbol": "SNED1",
          "ensemblId": "ENSG00000162804",
          "biotype": "protein_coding",
          "start": 240998612,
          "end": 241095579,
          "strand": "+",
          "slug": "sned1"
        },
        {
          "symbol": "MTERF4",
          "ensemblId": "ENSG00000122085",
          "biotype": "protein_coding",
          "start": 241072169,
          "end": 241102332,
          "strand": "-",
          "slug": "mterf4"
        },
        {
          "symbol": "PASK",
          "ensemblId": "ENSG00000115687",
          "biotype": "protein_coding",
          "start": 241106094,
          "end": 241150852,
          "strand": "-",
          "slug": "pask"
        },
        {
          "symbol": "PPP1R7",
          "ensemblId": "ENSG00000115685",
          "biotype": "protein_coding",
          "start": 241149549,
          "end": 241183652,
          "strand": "+",
          "slug": "ppp1r7"
        },
        {
          "symbol": "ANO7",
          "ensemblId": "ENSG00000146205",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ano7"
        },
        {
          "symbol": "HDLBP",
          "ensemblId": "ENSG00000115677",
          "biotype": "protein_coding",
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          "end": 241317061,
          "strand": "-",
          "slug": "hdlbp"
        },
        {
          "symbol": "SEPTIN2",
          "ensemblId": "ENSG00000168385",
          "biotype": "protein_coding",
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          "end": 241354030,
          "strand": "+",
          "slug": "septin2"
        },
        {
          "symbol": "FARP2",
          "ensemblId": "ENSG00000006607",
          "biotype": "protein_coding",
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          "end": 241494847,
          "strand": "+",
          "slug": "farp2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-hyperoxaluria-238",
        "name": "Pierwotna hiperoksaluria",
        "diseases": [
          {
            "mondoId": "MONDO:0100278",
            "name": "Niedobór aminotransferazy alaninowo-glioksylanowej",
            "genes": 1,
            "inheritance": null,
            "description": "Każde zaburzenie biosyntezy plazmalogenów, w którym przyczyną choroby jest mutacja genu AGXT.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0002474",
            "name": "Pierwotna hiperoksaluria",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "Dziedziczne zaburzenie charakteryzujące się nadmierną produkcją szczawianów, prowadzącą do hiperoksaluri.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/primary-hyperoxaluria-238"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-enzyme-concentration",
        "name": "Abnormal circulating enzyme concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration"
      },
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "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": "arterial-occlusion",
        "name": "Arterial occlusion",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/arterial-occlusion"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "calcinosis-cutis",
        "name": "Calcinosis cutis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/calcinosis-cutis"
      },
      {
        "slug": "calcinosis",
        "name": "Calcium buildup in soft tissues of body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/calcinosis"
      },
      {
        "slug": "calcium-oxalate-nephrolithiasis",
        "name": "Calcium oxalate nephrolithiasis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/calcium-oxalate-nephrolithiasis"
      },
      {
        "slug": "choroidal-neovascularization",
        "name": "Choroidal neovascularization",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/choroidal-neovascularization"
      },
      {
        "slug": "cutis-marmorata",
        "name": "Cutis marmorata",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/cutis-marmorata"
      },
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "slug": "gangrene",
        "name": "Death of body tissue due to lack of blood flow or infection",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/gangrene"
      },
      {
        "slug": "decreased-glomerular-filtration-rate",
        "name": "Decreased glomerular filtration rate",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "dysuria",
        "name": "Dull burning sensation with urination",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysuria"
      },
      {
        "slug": "elevated-urinary-glycolic-acid-level",
        "name": "Elevated urinary glycolic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-glycolic-acid-level"
      },
      {
        "slug": "elevated-urinary-glyoxylic-acid-level",
        "name": "Elevated urinary glyoxylic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-glyoxylic-acid-level"
      },
      {
        "slug": "enuresis",
        "name": "Enuresis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enuresis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "hyperoxaluria",
        "name": "High urine oxalate levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperoxaluria"
      },
      {
        "slug": "increased-bone-mineral-density",
        "name": "Increased bone mineral density",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/increased-bone-mineral-density"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "intermittent-claudication",
        "name": "Intermittent claudication",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/intermittent-claudication"
      },
      {
        "slug": "atrioventricular-block",
        "name": "Interruption of electrical communication between upper and lower chambers of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/atrioventricular-block"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "atherosclerosis",
        "name": "Narrowing and hardening of arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/atherosclerosis"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "peripheral-arterial-stenosis",
        "name": "Peripheral arterial stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-arterial-stenosis"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "acrocyanosis",
        "name": "Persistent blue color of hands or feet",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/acrocyanosis"
      },
      {
        "slug": "raynaud-phenomenon",
        "name": "Raynaud phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/raynaud-phenomenon"
      },
      {
        "slug": "reduced-hepatic-alanine-glyoxylate-aminotransferase-activity",
        "name": "Reduced hepatic alanine-glyoxylate aminotransferase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/reduced-hepatic-alanine-glyoxylate-aminotransferase-activity"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "retinal-crystals",
        "name": "Retinal crystals",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-crystals"
      },
      {
        "slug": "pathologic-fracture",
        "name": "Spontaneous fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pathologic-fracture"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/stroke"
      }
    ],
    "related": [
      {
        "slug": "grhpr",
        "symbol": "GRHPR",
        "name": "glyoxylate and hydroxypyruvate reductase",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/grhpr"
      },
      {
        "slug": "hoga1",
        "symbol": "HOGA1",
        "name": "4-hydroxy-2-oxoglutarate aldolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/hoga1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}