{
  "url": "https://dantelabs.com/no/genes/slc26a3",
  "gene": {
    "slug": "slc26a3",
    "symbol": "SLC26A3",
    "name": "solute carrier family 26 member 3",
    "hgnc": "HGNC:3018",
    "summary": null,
    "location": "7q22.3-q31.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "DRA",
      "CLD"
    ],
    "ensemblId": "ENSG00000091138",
    "entrezId": 1811,
    "omim": [
      "126650"
    ],
    "uniprot": [
      "P40879"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 107765469,
      "end": 107803223,
      "strand": "-",
      "ensemblTranscript": "ENST00000340010.10",
      "refseqTranscript": "NM_000111.3",
      "ensemblProtein": "ENSP00000345873.5",
      "refseqProtein": "NP_000102.1",
      "exons": [
        {
          "start": 107765469,
          "end": 107765878
        },
        {
          "start": 107767579,
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        {
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        {
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        {
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        {
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        },
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        {
          "start": 107789524,
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        },
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        },
        {
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        },
        {
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          "end": 107794597
        },
        {
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          "end": 107803223
        }
      ],
      "cds": {
        "start": 107765855,
        "end": 107794509
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 107405912,
      "end": 107443670,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 107284346,
      "end": 108284345,
      "genes": [
        {
          "symbol": "COG5",
          "ensemblId": "ENSG00000164597",
          "biotype": "protein_coding",
          "start": 107198800,
          "end": 107564515,
          "strand": "-",
          "slug": "cog5"
        },
        {
          "symbol": "GPR22",
          "ensemblId": "ENSG00000172209",
          "biotype": "protein_coding",
          "start": 107470018,
          "end": 107478011,
          "strand": "+",
          "slug": "gpr22"
        },
        {
          "symbol": "DUS4L",
          "ensemblId": "ENSG00000105865",
          "biotype": "protein_coding",
          "start": 107563484,
          "end": 107579483,
          "strand": "+",
          "slug": "dus4l"
        },
        {
          "symbol": "DUS4L-BCAP29",
          "ensemblId": "ENSG00000288558",
          "biotype": "protein_coding",
          "start": 107563971,
          "end": 107623317,
          "strand": "+",
          "slug": "dus4l-bcap29"
        },
        {
          "symbol": "BCAP29",
          "ensemblId": "ENSG00000075790",
          "biotype": "protein_coding",
          "start": 107579957,
          "end": 107633139,
          "strand": "+",
          "slug": "bcap29"
        },
        {
          "symbol": "SLC26A4",
          "ensemblId": "ENSG00000091137",
          "biotype": "protein_coding",
          "start": 107660594,
          "end": 107717809,
          "strand": "+",
          "slug": "slc26a4"
        },
        {
          "symbol": "CBLL1",
          "ensemblId": "ENSG00000105879",
          "biotype": "protein_coding",
          "start": 107743073,
          "end": 107762079,
          "strand": "+",
          "slug": "cbll1"
        },
        {
          "symbol": "DLD",
          "ensemblId": "ENSG00000091140",
          "biotype": "protein_coding",
          "start": 107891136,
          "end": 107931730,
          "strand": "+",
          "slug": "dld"
        },
        {
          "symbol": "LAMB1",
          "ensemblId": "ENSG00000091136",
          "biotype": "protein_coding",
          "start": 107921975,
          "end": 108004434,
          "strand": "-",
          "slug": "lamb1"
        },
        {
          "symbol": "LAMB4",
          "ensemblId": "ENSG00000091128",
          "biotype": "protein_coding",
          "start": 108023548,
          "end": 108130367,
          "strand": "-",
          "slug": "lamb4"
        },
        {
          "symbol": "NRCAM",
          "ensemblId": "ENSG00000091129",
          "biotype": "protein_coding",
          "start": 108147623,
          "end": 108456717,
          "strand": "-",
          "slug": "nrcam"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-diarrhoeas-and-enteropathies",
        "name": "Medfødte diareer og enteropatier",
        "diseases": [
          {
            "mondoId": "MONDO:0000824",
            "name": "Medfødt diaré",
            "genes": 12,
            "inheritance": null,
            "description": "Arvelige tilstander, blant annet medfødt kloriddiaré (SLC26A3), mikrovillusinklusjonssykdom (MYO5B), tufting-enteropati (EPCAM) og medfødt natriumdiaré (SPINT2, SLC9A3), som gir kronisk diaré fra tidlig spedbarnsalder.",
            "management": "En spesifikk diagnose styrer behandlingen, for eksempel erstatning av elektrolytter ved kloriddiaré, eller tidlig planlegging av parenteral ernæring eller tarmtransplantasjon ved mikrovillusinklusjonssykdom og tufting-enteropati.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/congenital-diarrhoeas-and-enteropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "alkalosis",
        "name": "Alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/alkalosis"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "increased-circulating-renin-concentration",
        "name": "Elevated blood renin level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-renin-concentration"
      },
      {
        "slug": "increased-circulating-aldosterone-concentration",
        "name": "Elevated plasma aldosterone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration"
      },
      {
        "slug": "elevated-serum-bicarbonate-concentration",
        "name": "Elevated serum bicarbonate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-serum-bicarbonate-concentration"
      },
      {
        "slug": "elevated-stool-chloride-content",
        "name": "Elevated stool chloride content",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-stool-chloride-content"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "growth-abnormality",
        "name": "Growth abnormality",
        "systems": [],
        "url": "https://dantelabs.com/traits/growth-abnormality"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hyperactive-renin-angiotensin-system",
        "name": "Hyperactive renin-angiotensin system",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/hyperactive-renin-angiotensin-system"
      },
      {
        "slug": "hypochloremia",
        "name": "Low blood chloride levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypochloremia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "metabolic-alkalosis",
        "name": "Metabolic alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-alkalosis"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "secretory-diarrhea",
        "name": "Secretory diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secretory-diarrhea"
      }
    ],
    "related": [
      {
        "slug": "dgat1",
        "symbol": "DGAT1",
        "name": "diacylglycerol O-acyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dgat1"
      },
      {
        "slug": "epcam",
        "symbol": "EPCAM",
        "name": "epithelial cell adhesion molecule",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/epcam"
      },
      {
        "slug": "gucy2c",
        "symbol": "GUCY2C",
        "name": "guanylate cyclase 2C",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gucy2c"
      },
      {
        "slug": "myo5b",
        "symbol": "MYO5B",
        "name": "myosin VB",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/myo5b"
      },
      {
        "slug": "neurog3",
        "symbol": "NEUROG3",
        "name": "neurogenin 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/neurog3"
      },
      {
        "slug": "plvap",
        "symbol": "PLVAP",
        "name": "plasmalemma vesicle associated protein",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/plvap"
      },
      {
        "slug": "slc5a1",
        "symbol": "SLC5A1",
        "name": "solute carrier family 5 member 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/slc5a1"
      },
      {
        "slug": "slc9a3",
        "symbol": "SLC9A3",
        "name": "solute carrier family 9 member A3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/slc9a3"
      },
      {
        "slug": "spint2",
        "symbol": "SPINT2",
        "name": "serine peptidase inhibitor, Kunitz type 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/spint2"
      },
      {
        "slug": "stx3",
        "symbol": "STX3",
        "name": "syntaxin 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/stx3"
      },
      {
        "slug": "wnt2b",
        "symbol": "WNT2B",
        "name": "Wnt family member 2B",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/wnt2b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}