{
  "url": "https://dantelabs.com/hu/genes/pcsk9",
  "gene": {
    "slug": "pcsk9",
    "symbol": "PCSK9",
    "name": "proprotein convertase subtilisin/kexin type 9",
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    "location": "1p32.3",
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    "aliases": [
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    "previousSymbols": [
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    "uniprot": [
      "Q8NBP7"
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      "strand": "+",
      "ensemblTranscript": "ENST00000302118.5",
      "refseqTranscript": "NM_174936.4",
      "ensemblProtein": "ENSP00000303208.5",
      "refseqProtein": "NP_777596.2",
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        {
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        {
          "symbol": "CIMAP2",
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        {
          "symbol": "DHCR24",
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        {
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        {
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        {
          "symbol": "USP24",
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          "end": 55215753,
          "strand": "-",
          "slug": "usp24"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-hypercholesterolemia",
        "name": "Familial Hypercholesterolemia",
        "diseases": [
          {
            "mondoId": "MONDO:0005439",
            "name": "familial hypercholesterolemia",
            "genes": 4,
            "inheritance": null,
            "description": null,
            "management": "Statins, ezetimibe, PCSK9 inhibitors, bempedoic acid, inclisiran",
            "evidence": {
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                "Ambry Genetics",
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 11
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/familial-hypercholesterolemia"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Hyperlipidemia",
        "diseases": [
          {
            "mondoId": "MONDO:0021187",
            "name": "Hyperlipidemia",
            "genes": 11,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 11
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hyperlipidemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-eye-physiology",
        "name": "Abnormal eye physiology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-eye-physiology"
      },
      {
        "slug": "abnormal-internal-carotid-artery-morphology",
        "name": "Abnormal internal carotid artery morphology",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-internal-carotid-artery-morphology"
      },
      {
        "slug": "abnormal-ldl-cholesterol-concentration",
        "name": "Abnormal LDL cholesterol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/abnormal-ldl-cholesterol-concentration"
      },
      {
        "slug": "abnormal-left-ventricular-function",
        "name": "Abnormal left ventricular function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-left-ventricular-function"
      },
      {
        "slug": "abnormal-nervous-system-physiology",
        "name": "Abnormal nervous system physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-nervous-system-physiology"
      },
      {
        "slug": "abnormal-tendon-morphology",
        "name": "Abnormal shape of tendon",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-tendon-morphology"
      },
      {
        "slug": "angina-pectoris",
        "name": "Angina pectoris",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/angina-pectoris"
      },
      {
        "slug": "aortic-atherosclerotic-lesion",
        "name": "Aortic atherosclerotic lesion",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-atherosclerotic-lesion"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "calcification-of-the-aorta",
        "name": "Calcification of the aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/calcification-of-the-aorta"
      },
      {
        "slug": "corneal-arcus",
        "name": "Corneal arcus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/corneal-arcus"
      },
      {
        "slug": "coronary-artery-aneurysm",
        "name": "Coronary artery aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/coronary-artery-aneurysm"
      },
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "xanthelasma",
        "name": "Fatty deposits in skin around the eyes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/xanthelasma"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "renal-steatosis",
        "name": "Fatty kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-steatosis"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "heart-murmur",
        "name": "Heart murmur",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/heart-murmur"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "elevated-circulating-ldl-c-concentration",
        "name": "Increased circulating LDL level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-ldl-c-concentration"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "myocardial-steatosis",
        "name": "Myocardial steatosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myocardial-steatosis"
      },
      {
        "slug": "renal-artery-stenosis",
        "name": "Narrowing of kidney artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-artery-stenosis"
      },
      {
        "slug": "peripheral-arterial-stenosis",
        "name": "Peripheral arterial stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-arterial-stenosis"
      },
      {
        "slug": "coronary-artery-atherosclerosis",
        "name": "Plaque build-up in arteries supplying blood to heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis"
      },
      {
        "slug": "cerebral-artery-atherosclerosis",
        "name": "Plaque build-up in cerebral artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-artery-atherosclerosis"
      },
      {
        "slug": "premature-coronary-artery-atherosclerosis",
        "name": "Premature coronary artery disease",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-coronary-artery-atherosclerosis"
      },
      {
        "slug": "premature-arteriosclerosis",
        "name": "Premature hardening of arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/premature-arteriosclerosis"
      },
      {
        "slug": "precocious-atherosclerosis",
        "name": "Premature plaque build-up in arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/precocious-atherosclerosis"
      },
      {
        "slug": "sudden-cardiac-death",
        "name": "Sudden cardiac death",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sudden-cardiac-death"
      },
      {
        "slug": "supravalvular-aortic-stenosis",
        "name": "Supravalvular aortic stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supravalvular-aortic-stenosis"
      },
      {
        "slug": "tendon-xanthomatosis",
        "name": "Tendon xanthomatosis",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tendon-xanthomatosis"
      },
      {
        "slug": "xanthomatosis",
        "name": "Yellow bumps of fatty deposits on skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/xanthomatosis"
      }
    ],
    "related": [
      {
        "slug": "apob",
        "symbol": "APOB",
        "name": "apolipoprotein B",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/apob"
      },
      {
        "slug": "ldlr",
        "symbol": "LDLR",
        "name": "low density lipoprotein receptor",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ldlr"
      },
      {
        "slug": "ldlrap1",
        "symbol": "LDLRAP1",
        "name": "low density lipoprotein receptor adaptor protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ldlrap1"
      },
      {
        "slug": "apoa5",
        "symbol": "APOA5",
        "name": "apolipoprotein A5",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/apoa5"
      },
      {
        "slug": "apoc2",
        "symbol": "APOC2",
        "name": "apolipoprotein C2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/apoc2"
      },
      {
        "slug": "apoe",
        "symbol": "APOE",
        "name": "apolipoprotein E",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/apoe"
      },
      {
        "slug": "cetp",
        "symbol": "CETP",
        "name": "cholesteryl ester transfer protein",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cetp"
      },
      {
        "slug": "gpihbp1",
        "symbol": "GPIHBP1",
        "name": "glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gpihbp1"
      },
      {
        "slug": "lipc",
        "symbol": "LIPC",
        "name": "lipase C, hepatic type",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/lipc"
      },
      {
        "slug": "lpl",
        "symbol": "LPL",
        "name": "lipoprotein lipase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/lpl"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 6,
    "url": "https://dantelabs.com/genes/pcsk9/variants",
    "items": [
      {
        "slug": "d129g",
        "name": "D129G",
        "commonName": null,
        "symbol": "PCSK9",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.386A>G",
        "position": 55044021,
        "grch37Position": 55509694,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/pcsk9/variants/d129g"
      },
      {
        "slug": "d374y",
        "name": "D374Y",
        "commonName": null,
        "symbol": "PCSK9",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.1120G>T",
        "position": 55057454,
        "grch37Position": 55523127,
        "part": {
          "kind": "exon",
          "number": 7
        },
        "url": "https://dantelabs.com/genes/pcsk9/variants/d374y"
      },
      {
        "slug": "e32k",
        "name": "E32K",
        "commonName": null,
        "symbol": "PCSK9",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.94G>A",
        "position": 55039931,
        "grch37Position": 55505604,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/pcsk9/variants/e32k"
      },
      {
        "slug": "l108r",
        "name": "L108R",
        "commonName": null,
        "symbol": "PCSK9",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.323T>G",
        "position": 55043958,
        "grch37Position": 55509631,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/pcsk9/variants/l108r"
      },
      {
        "slug": "r215h",
        "name": "R215H",
        "commonName": null,
        "symbol": "PCSK9",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.644G>A",
        "position": 55052398,
        "grch37Position": 55518071,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/pcsk9/variants/r215h"
      },
      {
        "slug": "s127r",
        "name": "S127R",
        "commonName": null,
        "symbol": "PCSK9",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.381T>A",
        "position": 55044016,
        "grch37Position": 55509689,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/pcsk9/variants/s127r"
      }
    ]
  }
}