{
  "url": "https://dantelabs.com/ko/genes/hnf1a",
  "gene": {
    "slug": "hnf1a",
    "symbol": "HNF1A",
    "name": "HNF1 homeobox A",
    "hgnc": "HGNC:11621",
    "summary": null,
    "location": "12q24.31",
    "locusType": "gene with protein product",
    "aliases": [
      "HNF1",
      "LFB1",
      "HNF1α"
    ],
    "previousSymbols": [
      "MODY3",
      "TCF1"
    ],
    "ensemblId": "ENSG00000135100",
    "entrezId": 6927,
    "omim": [
      "142410"
    ],
    "uniprot": [
      "P20823"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 120978543,
      "end": 121002512,
      "strand": "+",
      "ensemblTranscript": "ENST00000257555.11",
      "refseqTranscript": "NM_000545.8",
      "ensemblProtein": "ENSP00000257555.5",
      "refseqProtein": "NP_000536.6",
      "exons": [
        {
          "start": 120978543,
          "end": 120979094
        },
        {
          "start": 120988833,
          "end": 120989032
        },
        {
          "start": 120993520,
          "end": 120993706
        },
        {
          "start": 120994164,
          "end": 120994405
        },
        {
          "start": 120996262,
          "end": 120996413
        },
        {
          "start": 120996541,
          "end": 120996742
        },
        {
          "start": 120997474,
          "end": 120997665
        },
        {
          "start": 120999268,
          "end": 120999389
        },
        {
          "start": 120999483,
          "end": 120999627
        },
        {
          "start": 121001065,
          "end": 121002512
        }
      ],
      "cds": {
        "start": 120978769,
        "end": 121001192
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 121416346,
      "end": 121440315,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 120490528,
      "end": 121490527,
      "genes": [
        {
          "symbol": "SRSF9",
          "ensemblId": "ENSG00000111786",
          "biotype": "protein_coding",
          "start": 120456138,
          "end": 120495946,
          "strand": "-",
          "slug": "srsf9"
        },
        {
          "symbol": "DYNLL1",
          "ensemblId": "ENSG00000088986",
          "biotype": "protein_coding",
          "start": 120468451,
          "end": 120498913,
          "strand": "+",
          "slug": "dynll1"
        },
        {
          "symbol": "COQ5",
          "ensemblId": "ENSG00000110871",
          "biotype": "protein_coding",
          "start": 120502670,
          "end": 120534434,
          "strand": "-",
          "slug": "coq5"
        },
        {
          "symbol": "RNF10",
          "ensemblId": "ENSG00000022840",
          "biotype": "protein_coding",
          "start": 120533480,
          "end": 120577592,
          "strand": "+",
          "slug": "rnf10"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288623",
          "biotype": "protein_coding",
          "start": 120534697,
          "end": 120534957,
          "strand": "+"
        },
        {
          "symbol": "POP5",
          "ensemblId": "ENSG00000167272",
          "biotype": "protein_coding",
          "start": 120573578,
          "end": 120581411,
          "strand": "-",
          "slug": "pop5"
        },
        {
          "symbol": "CABP1",
          "ensemblId": "ENSG00000157782",
          "biotype": "protein_coding",
          "start": 120640563,
          "end": 120667327,
          "strand": "+",
          "slug": "cabp1"
        },
        {
          "symbol": "MLEC",
          "ensemblId": "ENSG00000110917",
          "biotype": "protein_coding",
          "start": 120686800,
          "end": 120704285,
          "strand": "+",
          "slug": "mlec"
        },
        {
          "symbol": "UNC119B",
          "ensemblId": "ENSG00000175970",
          "biotype": "protein_coding",
          "start": 120710426,
          "end": 120723640,
          "strand": "+",
          "slug": "unc119b"
        },
        {
          "symbol": "ACADS",
          "ensemblId": "ENSG00000122971",
          "biotype": "protein_coding",
          "start": 120725774,
          "end": 120740009,
          "strand": "+",
          "slug": "acads"
        },
        {
          "symbol": "SPPL3",
          "ensemblId": "ENSG00000157837",
          "biotype": "protein_coding",
          "start": 120762510,
          "end": 120904414,
          "strand": "-",
          "slug": "sppl3"
        },
        {
          "symbol": "C12orf43",
          "ensemblId": "ENSG00000157895",
          "biotype": "protein_coding",
          "start": 121000486,
          "end": 121016504,
          "strand": "-",
          "slug": "c12orf43"
        },
        {
          "symbol": "OASL",
          "ensemblId": "ENSG00000135114",
          "biotype": "protein_coding",
          "start": 121017763,
          "end": 121039246,
          "strand": "-",
          "slug": "oasl"
        },
        {
          "symbol": "P2RX7",
          "ensemblId": "ENSG00000089041",
          "biotype": "protein_coding",
          "start": 121132785,
          "end": 121188032,
          "strand": "+",
          "slug": "p2rx7"
        },
        {
          "symbol": "P2RX4",
          "ensemblId": "ENSG00000135124",
          "biotype": "protein_coding",
          "start": 121209961,
          "end": 121234112,
          "strand": "+",
          "slug": "p2rx4"
        },
        {
          "symbol": "CAMKK2",
          "ensemblId": "ENSG00000110931",
          "biotype": "protein_coding",
          "start": 121217103,
          "end": 121298308,
          "strand": "-",
          "slug": "camkk2"
        },
        {
          "symbol": "ANAPC5",
          "ensemblId": "ENSG00000089053",
          "biotype": "protein_coding",
          "start": 121308243,
          "end": 121399896,
          "strand": "-",
          "slug": "anapc5"
        },
        {
          "symbol": "RNF34",
          "ensemblId": "ENSG00000170633",
          "biotype": "protein_coding",
          "start": 121400078,
          "end": 121446466,
          "strand": "+",
          "slug": "rnf34"
        },
        {
          "symbol": "KDM2B",
          "ensemblId": "ENSG00000089094",
          "biotype": "protein_coding",
          "start": 121429096,
          "end": 121582286,
          "strand": "-",
          "slug": "kdm2b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "diabetes-mellitus",
        "name": "당뇨병 (Diabetes Mellitus)",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "당뇨병 (Diabetes Mellitus)",
            "genes": 31,
            "inheritance": null,
            "description": "인슐린 분비가 줄어들거나 인슐린 저항성/둔감화로 인해 혈당이 비정상적으로 높아지는 것이 특징인 대사 질환입니다.",
            "management": "2단계 무증상 제1형 당뇨병에 대한 테플리주맙(Tzield)(FDA 승인 2022년); 임상적 제1형 당뇨병 발병 시 인슐린 대체요법; 고위험 친족을 대상으로 한 TrialNet 자가항체 검사; 폐쇄형 루프(closed-loop) 인슐린 전달 시스템",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/diabetes-mellitus"
      },
      {
        "slug": "maturity-onset-diabetes-of-the-young",
        "name": "청소년기 발병 성인형 당뇨병(MODY)",
        "diseases": [
          {
            "mondoId": "MONDO:0018911",
            "name": "청소년기 발병 성인형 당뇨병(MODY)",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "MODY(청소년기 발병 성인형 당뇨병)는 드물고 가족력이 있으며, 임상적으로나 유전적으로 이질적인 당뇨병 유형입니다. 일반적으로 10~45세에 발병하며, 내인성 인슐린 분비가 유지되고, 췌장 베타세포에 대한 자가면역이 없으며, 비만이나 인슐린 저항성이 없는 것이 특징입니다. 일부 하위 유형에서는 췌장 외 증상이 나타나기도 합니다.",
            "management": "GCK-MODY: 치료가 필요하지 않습니다. HNF1A/HNF4A-MODY: 저용량 설포닐우레아를 사용합니다. HNF1B-MODY: 인슐린 치료와 신장 기능 관찰을 병행합니다. 다유전자성 제2형 당뇨병: 동반 질환 양상에 따라 생활습관 개선, 메트포르민, GLP-1 수용체 작용제, SGLT2 억제제를 사용합니다.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/maturity-onset-diabetes-of-the-young"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-c-peptide-concentration",
        "name": "Abnormal circulating C-peptide concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-c-peptide-concentration"
      },
      {
        "slug": "abnormal-circulating-insulin-concentration",
        "name": "Abnormal circulating insulin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-insulin-concentration"
      },
      {
        "slug": "abnormal-oral-glucose-tolerance",
        "name": "Abnormal oral glucose tolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-oral-glucose-tolerance"
      },
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "systems": [],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "slug": "agitation",
        "name": "Agitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agitation"
      },
      {
        "slug": "autoimmune-antibody-positivity",
        "name": "Autoimmune antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/autoimmune-antibody-positivity"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "large-for-gestational-age",
        "name": "Birth weight > 90th percentile",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/large-for-gestational-age"
      },
      {
        "slug": "insulin-resistance",
        "name": "Body fails to respond to insulin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/insulin-resistance"
      },
      {
        "slug": "renal-cell-carcinoma",
        "name": "Cancer starting in small tubes in kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/renal-cell-carcinoma"
      },
      {
        "slug": "hypoglycemic-coma",
        "name": "Coma caused by low blood sugar",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemic-coma"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "decreased-circulating-1-5-anhydroglucitol-concentration",
        "name": "Decreased circulating 1,5 anhydroglucitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-1-5-anhydroglucitol-concentration"
      },
      {
        "slug": "decreased-circulating-free-fatty-acid-level",
        "name": "Decreased circulating free fatty acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-free-fatty-acid-level"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "diabetic-ketoacidosis",
        "name": "Diabetic ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/diabetic-ketoacidosis"
      },
      {
        "slug": "drowsiness",
        "name": "Drowsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/drowsiness"
      },
      {
        "slug": "elevated-circulating-c-peptide-concentration",
        "name": "Elevated circulating C-peptide concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-peptide-concentration"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "elevated-hemoglobin-a1c",
        "name": "Elevated hemoglobin A1c",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-hemoglobin-a1c"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "excessive-insulin-response-to-glucagon-test",
        "name": "Excessive insulin response to glucagon test",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/excessive-insulin-response-to-glucagon-test"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "slug": "glucose-intolerance",
        "name": "Glucose intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glucose-intolerance"
      },
      {
        "slug": "hepatocellular-adenoma",
        "name": "Hepatocellular adenoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatocellular-adenoma"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "hyperinsulinemic-hypoglycemia",
        "name": "Hyperinsulinemic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemic-hypoglycemia"
      },
      {
        "slug": "hypoglycemic-seizures",
        "name": "Hypoglycemic seizures",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoglycemic-seizures"
      },
      {
        "slug": "hypoinsulinemia",
        "name": "Hypoinsulinemia",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoinsulinemia"
      },
      {
        "slug": "hypoketotic-hypoglycemia",
        "name": "Hypoketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoketotic-hypoglycemia"
      },
      {
        "slug": "exocrine-pancreatic-insufficiency",
        "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency"
      },
      {
        "slug": "polyphagia",
        "name": "Increased appetite",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polyphagia"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "increased-waist-to-hip-ratio",
        "name": "Increased waist to hip ratio",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/increased-waist-to-hip-ratio"
      },
      {
        "slug": "insulin-resistant-diabetes-mellitus",
        "name": "Insulin resistant diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/insulin-resistant-diabetes-mellitus"
      },
      {
        "slug": "ketoacidosis",
        "name": "Ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/ketoacidosis"
      },
      {
        "slug": "ketotic-hypoglycemia",
        "name": "Ketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ketotic-hypoglycemia"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-consciousness"
      },
      {
        "slug": "reactive-hypoglycemia",
        "name": "Low blood sugar after a meal",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reactive-hypoglycemia"
      },
      {
        "slug": "neonatal-hypoglycemia",
        "name": "Low blood sugar in newborn",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neonatal-hypoglycemia"
      },
      {
        "slug": "fasting-hypoglycemia",
        "name": "Low blood sugar when fasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fasting-hypoglycemia"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "maturity-onset-diabetes-of-the-young",
        "name": "Maturity-onset diabetes of the young",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/maturity-onset-diabetes-of-the-young"
      },
      {
        "slug": "neurodevelopmental-abnormality",
        "name": "Neurodevelopmental abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-abnormality"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "type-ii-diabetes-mellitus",
        "name": "Noninsulin-dependent diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "overweight",
        "name": "Overweight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/overweight"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "polycystic-ovaries",
        "name": "Polycystic ovaries",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polycystic-ovaries"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "episodic-hyperhidrosis",
        "name": "Sporadic excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-hyperhidrosis"
      },
      {
        "slug": "transient-neonatal-diabetes-mellitus",
        "name": "Transient neonatal diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/transient-neonatal-diabetes-mellitus"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      },
      {
        "slug": "pancreatic-hypoplasia",
        "name": "Underdeveloped pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pancreatic-hypoplasia"
      }
    ],
    "related": [
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/abcc8"
      },
      {
        "slug": "appl1",
        "symbol": "APPL1",
        "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/appl1"
      },
      {
        "slug": "cel",
        "symbol": "CEL",
        "name": "carboxyl ester lipase",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/cel"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/gck"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "name": "HNF1 homeobox B",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/hnf1b"
      },
      {
        "slug": "hnf4a",
        "symbol": "HNF4A",
        "name": "hepatocyte nuclear factor 4 alpha",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/hnf4a"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "name": "insulin",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/ins"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/kcnj11"
      },
      {
        "slug": "klf11",
        "symbol": "KLF11",
        "name": "KLF transcription factor 11",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/klf11"
      },
      {
        "slug": "neurod1",
        "symbol": "NEUROD1",
        "name": "neuronal differentiation 1",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/neurod1"
      },
      {
        "slug": "pdx1",
        "symbol": "PDX1",
        "name": "pancreatic and duodenal homeobox 1",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/pdx1"
      },
      {
        "slug": "akt2",
        "symbol": "AKT2",
        "name": "AKT serine/threonine kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/akt2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 245,
    "url": "https://dantelabs.com/genes/hnf1a/variants",
    "items": [
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        "url": "https://dantelabs.com/genes/hnf1a/variants/a15gfs15"
      },
      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/a116t"
      },
      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/a116v"
      },
      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/a209e"
      },
      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/a209sfs11"
      },
      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/a239t"
      },
      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/a276d"
      },
      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/a276g"
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        "url": "https://dantelabs.com/genes/hnf1a/variants/a406v"
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      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/a501t"
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      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/c-1a-c"
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      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/c-1a-g"
      },
      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/c-1a-t"
      },
      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/c-2t-c"
      },
      {
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        "url": "https://dantelabs.com/genes/hnf1a/variants/c-58g-c"
      },
      {
        "slug": "c-129to130delinsa",
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        "url": "https://dantelabs.com/genes/hnf1a/variants/c-129to130delinsa"
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      {
        "slug": "c-326plus1g-a",
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        "url": "https://dantelabs.com/genes/hnf1a/variants/c-326plus1g-a"
      },
      {
        "slug": "c-326plus1g-c",
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        },
        "url": "https://dantelabs.com/genes/hnf1a/variants/c-326plus1g-c"
      },
      {
        "slug": "c-326plus1g-t",
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        "url": "https://dantelabs.com/genes/hnf1a/variants/c-326plus1g-t"
      },
      {
        "slug": "c-326plus2t-g",
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        },
        "url": "https://dantelabs.com/genes/hnf1a/variants/c-326plus2t-g"
      },
      {
        "slug": "c-327-1g-a",
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        },
        "url": "https://dantelabs.com/genes/hnf1a/variants/c-327-1g-a"
      },
      {
        "slug": "c-327-1g-t",
        "name": "c.327-1G>T",
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        "symbol": "HNF1A",
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        "position": 120988832,
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        },
        "url": "https://dantelabs.com/genes/hnf1a/variants/c-327-1g-t"
      },
      {
        "slug": "c-327-2a-t",
        "name": "c.327-2A>T",
        "commonName": null,
        "symbol": "HNF1A",
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        "position": 120988831,
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        "part": {
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          "number": 1
        },
        "url": "https://dantelabs.com/genes/hnf1a/variants/c-327-2a-t"
      },
      {
        "slug": "c-497dup",
        "name": "c.497dup",
        "commonName": null,
        "symbol": "HNF1A",
        "classification": "likely-pathogenic",
        "stars": 3,
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        "position": 120989002,
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        "part": {
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        },
        "url": "https://dantelabs.com/genes/hnf1a/variants/c-497dup"
      },
      {
        "slug": "c-498c-g",
        "name": "c.498C>G",
        "commonName": null,
        "symbol": "HNF1A",
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        "position": 120989004,
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        "part": {
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        },
        "url": "https://dantelabs.com/genes/hnf1a/variants/c-498c-g"
      },
      {
        "slug": "c-514to526plus33del",
        "name": "c.514_526+33del",
        "commonName": null,
        "symbol": "HNF1A",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 120989019,
        "grch37Position": 121426822,
        "part": {
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          "number": 2
        },
        "url": "https://dantelabs.com/genes/hnf1a/variants/c-514to526plus33del"
      },
      {
        "slug": "c-526plus1to526plus2inst",
        "name": "c.526+1_526+2insT",
        "commonName": null,
        "symbol": "HNF1A",
        "classification": "likely-pathogenic",
        "stars": 3,
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