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"protein_coding", "start": 144517957, "end": 144526244, "strand": "+", "slug": "lrrc14" }, { "symbol": "LRRC24", "ensemblId": "ENSG00000254402", "biotype": "protein_coding", "start": 144522385, "end": 144527608, "strand": "-", "slug": "lrrc24" }, { "symbol": "C8orf82", "ensemblId": "ENSG00000213563", "biotype": "protein_coding", "start": 144525733, "end": 144529132, "strand": "-", "slug": "c8orf82" }, { "symbol": "ARHGAP39", "ensemblId": "ENSG00000147799", "biotype": "protein_coding", "start": 144529179, "end": 144685879, "strand": "-", "slug": "arhgap39" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "원발성 미토콘드리아 질환", "diseases": [ { "mondoId": "MONDO:0000066", "name": "미토콘드리아 호흡사슬 복합체 결핍증", "genes": 61, "inheritance": null, "description": "핵 또는 미토콘드리아 유전자의 변이로 인해 복합체 I, II, III, IV 또는 V가 단독으로 결핍되는 질환으로, 뇌, 근육, 심장, 간 등 에너지를 많이 요구하는 장기에 영향을 줄 수 있습니다.", "management": "이 결과를 알면 진단을 위한 검사를 마무리할 수 있고, 영향을 받은 장기에 대한 추적 관찰과 미토콘드리아에 독성을 나타내는 약물의 회피를 안내받을 수 있습니다.", "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "acute-hepatic-failure", "name": "Acute liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/acute-hepatic-failure" }, { "slug": "coma", "name": "Coma", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coma" }, { "slug": "decreased-activity-of-mitochondrial-complex-iii", "name": "Decreased activity of mitochondrial complex III", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iii" }, { "slug": "dehydration", "name": "Dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dehydration" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "elevated-lactate-pyruvate-ratio", "name": "Elevated lactate:pyruvate ratio", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-lactate-pyruvate-ratio" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "episodic-ketoacidosis", "name": "Episodic ketoacidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/episodic-ketoacidosis" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hyperammonemia", "name": "High blood ammonia levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperammonemia" }, { "slug": "hyperglycemia", "name": "High blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperglycemia" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "ketoacidosis", "name": "Ketoacidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ketoacidosis" }, { "slug": "ketonuria", "name": "Ketonuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ketonuria" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "metabolic-ketoacidosis", "name": "Metabolic ketoacidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/metabolic-ketoacidosis" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "progressive-neurologic-deterioration", "name": "Worsening neurological symptoms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration" } ], "related": [ { "slug": "acad9", "symbol": "ACAD9", "name": "acyl-CoA dehydrogenase family member 9", "shared": 1, "url": "https://dantelabs.com/ko/genes/acad9" }, { "slug": "atp5f1a", "symbol": "ATP5F1A", "name": "ATP synthase F1 subunit alpha", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp5f1a" }, { "slug": "atp5f1d", "symbol": "ATP5F1D", "name": "ATP synthase F1 subunit delta", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp5f1d" }, { "slug": "atp5f1e", "symbol": "ATP5F1E", "name": "ATP synthase F1 subunit epsilon", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp5f1e" }, { "slug": "bcs1l", "symbol": "BCS1L", "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone", "shared": 1, "url": "https://dantelabs.com/ko/genes/bcs1l" }, { "slug": "coa6", "symbol": "COA6", "name": "cytochrome c oxidase assembly factor 6", "shared": 1, "url": "https://dantelabs.com/ko/genes/coa6" }, { "slug": "coa8", "symbol": "COA8", "name": "cytochrome c oxidase assembly factor 8", "shared": 1, "url": "https://dantelabs.com/ko/genes/coa8" }, { "slug": "cox10", "symbol": "COX10", "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10", "shared": 1, "url": "https://dantelabs.com/ko/genes/cox10" }, { "slug": "cox15", "symbol": "COX15", "name": "cytochrome c oxidase assembly factor COX15", "shared": 1, "url": "https://dantelabs.com/ko/genes/cox15" }, { "slug": "cox16", "symbol": "COX16", "name": "cytochrome c oxidase assembly factor COX16", "shared": 1, "url": "https://dantelabs.com/ko/genes/cox16" }, { "slug": "cox20", "symbol": "COX20", "name": "cytochrome c oxidase assembly factor COX20", "shared": 1, "url": "https://dantelabs.com/ko/genes/cox20" }, { "slug": "cox6b1", "symbol": "COX6B1", "name": "cytochrome c oxidase subunit 6B1", "shared": 1, "url": "https://dantelabs.com/ko/genes/cox6b1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }