{
  "url": "https://dantelabs.com/et/genes/slc12a1",
  "gene": {
    "slug": "slc12a1",
    "symbol": "SLC12A1",
    "name": "solute carrier family 12 member 1",
    "hgnc": "HGNC:10910",
    "summary": null,
    "location": "15q21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "NKCC2",
      "CCC2",
      "BSC1",
      "BSC",
      "BSC-1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000074803",
    "entrezId": 6557,
    "omim": [
      "600839"
    ],
    "uniprot": [
      "Q13621"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 48206302,
      "end": 48304078,
      "strand": "+",
      "ensemblTranscript": "ENST00000380993.8",
      "refseqTranscript": "NM_000338.3",
      "ensemblProtein": "ENSP00000370381.3",
      "refseqProtein": "NP_000329.2",
      "exons": [
        {
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      ],
      "cds": {
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        "end": 48302885
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 48483861,
      "end": 48596275,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 47755190,
      "end": 48755189,
      "genes": [
        {
          "symbol": "SEMA6D",
          "ensemblId": "ENSG00000137872",
          "biotype": "protein_coding",
          "start": 47184079,
          "end": 47774228,
          "strand": "+",
          "slug": "sema6d"
        },
        {
          "symbol": "SLC24A5",
          "ensemblId": "ENSG00000188467",
          "biotype": "protein_coding",
          "start": 48120990,
          "end": 48142698,
          "strand": "+",
          "slug": "slc24a5"
        },
        {
          "symbol": "MYEF2",
          "ensemblId": "ENSG00000104177",
          "biotype": "protein_coding",
          "start": 48134632,
          "end": 48178375,
          "strand": "-",
          "slug": "myef2"
        },
        {
          "symbol": "CTXN2",
          "ensemblId": "ENSG00000233932",
          "biotype": "protein_coding",
          "start": 48177875,
          "end": 48203758,
          "strand": "+",
          "slug": "ctxn2"
        },
        {
          "symbol": "DUT",
          "ensemblId": "ENSG00000128951",
          "biotype": "protein_coding",
          "start": 48331011,
          "end": 48343373,
          "strand": "+",
          "slug": "dut"
        },
        {
          "symbol": "FBN1",
          "ensemblId": "ENSG00000166147",
          "biotype": "protein_coding",
          "start": 48408016,
          "end": 48645791,
          "strand": "-",
          "slug": "fbn1"
        },
        {
          "symbol": "CEP152",
          "ensemblId": "ENSG00000103995",
          "biotype": "protein_coding",
          "start": 48712928,
          "end": 48811146,
          "strand": "-",
          "slug": "cep152"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "bartter-disease",
        "name": "Bartter-sündroom",
        "diseases": [
          {
            "mondoId": "MONDO:0100344",
            "name": "Bartter-sündroom 1. tüüp",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0015231",
            "name": "Bartteri sündroom",
            "genes": 5,
            "inheritance": null,
            "description": "Pärilike neerutuubulite soolakaotusega kulgevate haiguste rühm, mida põhjustavad sellised geenid nagu SLC12A1, KCNJ1, CLCNKB, BSND ja CASR. Haigusele on iseloomulik madal kaaliumisisaldus, metaboolne alkaloos ja kõrge uriinikaltsium.",
            "management": "Selle teadmine aitab juhtida soola- ja kaaliumiasendust ning jälgida kasvu ja neerude kaltsifikatsiooni.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/bartter-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "chondrocalcinosis",
        "name": "Calcium deposits in joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/chondrocalcinosis"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "hyperparathyroidism",
        "name": "Elevated blood parathyroid hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperparathyroidism"
      },
      {
        "slug": "increased-circulating-renin-concentration",
        "name": "Elevated blood renin level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "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": "hypercalciuria",
        "name": "Elevated urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercalciuria"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fetal-polyuria",
        "name": "Fetal polyuria",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/fetal-polyuria"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hypercalcemia",
        "name": "High blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypercalcemia"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hyperprostaglandinuria",
        "name": "High urine prostaglandin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hyperprostaglandinuria"
      },
      {
        "slug": "hyperactive-renin-angiotensin-system",
        "name": "Hyperactive renin-angiotensin system",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperactive-renin-angiotensin-system"
      },
      {
        "slug": "hypokalemic-metabolic-alkalosis",
        "name": "Hypokalemic metabolic alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypokalemic-metabolic-alkalosis"
      },
      {
        "slug": "hyposthenuria",
        "name": "Hyposthenuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hyposthenuria"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "increased-serum-prostaglandin-e2",
        "name": "Increased serum prostaglandin E2",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-serum-prostaglandin-e2"
      },
      {
        "slug": "hyperchloriduria",
        "name": "Increased urinary chloride",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hyperchloriduria"
      },
      {
        "slug": "increased-urinary-potassium",
        "name": "Increased urinary potassium",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-urinary-potassium"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "tetany",
        "name": "Intermittent involuntary muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/tetany"
      },
      {
        "slug": "renal-salt-wasting",
        "name": "Loss of salt in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-salt-wasting"
      },
      {
        "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": "low-to-normal-blood-pressure",
        "name": "Low-to-normal blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/low-to-normal-blood-pressure"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "renal-juxtaglomerular-cell-hypertrophy-hyperplasia",
        "name": "Renal juxtaglomerular cell hypertrophy/hyperplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-juxtaglomerular-cell-hypertrophy-hyperplasia"
      },
      {
        "slug": "renal-potassium-wasting",
        "name": "Renal potassium wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-potassium-wasting"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "bsnd",
        "symbol": "BSND",
        "name": "barttin CLCNK type accessory subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/bsnd"
      },
      {
        "slug": "clcnkb",
        "symbol": "CLCNKB",
        "name": "chloride voltage-gated channel Kb",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/clcnkb"
      },
      {
        "slug": "kcnj1",
        "symbol": "KCNJ1",
        "name": "potassium inwardly rectifying channel subfamily J member 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/kcnj1"
      },
      {
        "slug": "maged2",
        "symbol": "MAGED2",
        "name": "MAGE family member D2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/maged2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}