{
  "url": "https://dantelabs.com/sv/genes/slc3a1",
  "gene": {
    "slug": "slc3a1",
    "symbol": "SLC3A1",
    "name": "solute carrier family 3 member 1",
    "hgnc": "HGNC:11025",
    "summary": null,
    "location": "2p21",
    "locusType": "gene with protein product",
    "aliases": [
      "CSNU1",
      "D2H",
      "RBAT",
      "ATR1",
      "NBAT"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000138079",
    "entrezId": 6519,
    "omim": [
      "104614"
    ],
    "uniprot": [
      "Q07837"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 44275480,
      "end": 44321494,
      "strand": "+",
      "ensemblTranscript": "ENST00000260649.11",
      "refseqTranscript": "NM_000341.4",
      "ensemblProtein": "ENSP00000260649.6",
      "refseqProtein": "NP_000332.2",
      "exons": [
        {
          "start": 44275480,
          "end": 44275965
        },
        {
          "start": 44280716,
          "end": 44280895
        },
        {
          "start": 44281387,
          "end": 44281541
        },
        {
          "start": 44286032,
          "end": 44286157
        },
        {
          "start": 44299971,
          "end": 44300090
        },
        {
          "start": 44301003,
          "end": 44301127
        },
        {
          "start": 44304143,
          "end": 44304338
        },
        {
          "start": 44312586,
          "end": 44312753
        },
        {
          "start": 44313835,
          "end": 44313951
        },
        {
          "start": 44320199,
          "end": 44321494
        }
      ],
      "cds": {
        "start": 44275536,
        "end": 44320639
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 44502599,
      "end": 44548633,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 43798487,
      "end": 44798486,
      "genes": [
        {
          "symbol": "DYNC2LI1",
          "ensemblId": "ENSG00000138036",
          "biotype": "protein_coding",
          "start": 43774011,
          "end": 43828352,
          "strand": "+",
          "slug": "dync2li1"
        },
        {
          "symbol": "ABCG5",
          "ensemblId": "ENSG00000138075",
          "biotype": "protein_coding",
          "start": 43806213,
          "end": 43838865,
          "strand": "-",
          "slug": "abcg5"
        },
        {
          "symbol": "ABCG8",
          "ensemblId": "ENSG00000143921",
          "biotype": "protein_coding",
          "start": 43831942,
          "end": 43882988,
          "strand": "+",
          "slug": "abcg8"
        },
        {
          "symbol": "LRPPRC",
          "ensemblId": "ENSG00000138095",
          "biotype": "protein_coding",
          "start": 43886224,
          "end": 43996226,
          "strand": "-",
          "slug": "lrpprc"
        },
        {
          "symbol": "PPM1B",
          "ensemblId": "ENSG00000138032",
          "biotype": "protein_coding",
          "start": 44167969,
          "end": 44244384,
          "strand": "+",
          "slug": "ppm1b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285542",
          "biotype": "protein_coding",
          "start": 44168851,
          "end": 44320310,
          "strand": "+"
        },
        {
          "symbol": "PREPL",
          "ensemblId": "ENSG00000138078",
          "biotype": "protein_coding",
          "start": 44316185,
          "end": 44361862,
          "strand": "-",
          "slug": "prepl"
        },
        {
          "symbol": "CAMKMT",
          "ensemblId": "ENSG00000143919",
          "biotype": "protein_coding",
          "start": 44361874,
          "end": 44776433,
          "strand": "+",
          "slug": "camkmt"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cystinuria",
        "name": "Cystinuri",
        "diseases": [
          {
            "mondoId": "MONDO:0009067",
            "name": "Cystinuri",
            "genes": 2,
            "inheritance": null,
            "description": "Cystinuri är en rubbning i njurarnas tubulära transport av aminosyror som kännetecknas av återkommande bildning av cystinstenar i njurarna.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/cystinuria"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "argininuria",
        "name": "High urine arginine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/argininuria"
      },
      {
        "slug": "cystinuria",
        "name": "High urine cystine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cystinuria"
      },
      {
        "slug": "hyperlysinuria",
        "name": "High urine lysine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hyperlysinuria"
      },
      {
        "slug": "polyphagia",
        "name": "Increased appetite",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polyphagia"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "long-eyelashes",
        "name": "Long eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/long-eyelashes"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "mitochondrial-respiratory-chain-defects",
        "name": "Mitochondrial respiratory chain defects",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mitochondrial-respiratory-chain-defects"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      },
      {
        "slug": "ornithinuria",
        "name": "Ornithinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ornithinuria"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      }
    ],
    "related": [
      {
        "slug": "slc7a9",
        "symbol": "SLC7A9",
        "name": "solute carrier family 7 member 9",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/slc7a9"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}