{ "url": "https://dantelabs.com/sv/genes/ndufv1", "gene": { "slug": "ndufv1", "symbol": "NDUFV1", "name": "NADH:ubiquinone oxidoreductase core subunit V1", "hgnc": "HGNC:7716", "summary": null, "location": "11q13.2", "locusType": "gene with protein product", "aliases": [ "CI-51K" ], "previousSymbols": [], "ensemblId": "ENSG00000167792", "entrezId": 4723, "omim": [ "161015" ], "uniprot": [ "P49821" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 67606936, "end": 67612554, "strand": "+", "ensemblTranscript": "ENST00000322776.11", "refseqTranscript": "NM_007103.4", "ensemblProtein": "ENSP00000322450.6", "refseqProtein": "NP_009034.2", "exons": [ { "start": 67606936, "end": 67607076 }, { "start": 67608396, "end": 67608478 }, { "start": 67608552, "end": 67608722 }, { "start": 67609452, "end": 67609635 }, { "start": 67610381, "end": 67610570 }, { "start": 67610995, "end": 67611207 }, { "start": 67611403, "end": 67611569 }, { "start": 67611897, "end": 67611978 }, { "start": 67612120, "end": 67612265 }, { "start": 67612372, "end": 67612554 } ], "cds": { "start": 67607005, "end": 67612458 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 67374323, "end": 67380006, "strand": "+" }, "neighbourhood": { "release": "116", "start": 67109745, "end": 68109744, "genes": [ { "symbol": "KDM2A", "ensemblId": "ENSG00000173120", "biotype": "protein_coding", "start": 67119247, "end": 67258082, "strand": "+", "slug": "kdm2a" }, { "symbol": "GRK2", "ensemblId": "ENSG00000173020", "biotype": "protein_coding", "start": 67266351, "end": 67286562, "strand": "+", "slug": "grk2" }, { "symbol": "ANKRD13D", "ensemblId": "ENSG00000172932", "biotype": "protein_coding", "start": 67288655, "end": 67302486, "strand": "+", "slug": "ankrd13d" }, { "symbol": "SSH3", "ensemblId": "ENSG00000172830", "biotype": "protein_coding", "start": 67303478, "end": 67312608, "strand": "+", "slug": "ssh3" }, { "symbol": "RAD9A", "ensemblId": "ENSG00000172613", "biotype": "protein_coding", "start": 67317871, "end": 67398412, "strand": "+", "slug": "rad9a" }, { "symbol": "POLD4", "ensemblId": "ENSG00000175482", "biotype": "protein_coding", "start": 67345400, "end": 67356972, "strand": "-", "slug": "pold4" }, { "symbol": "", "ensemblId": "ENSG00000256514", "biotype": "protein_coding", "start": 67351572, "end": 67373584, "strand": "-" }, { "symbol": "CLCF1", "ensemblId": "ENSG00000175505", "biotype": "protein_coding", "start": 67364168, "end": 67374301, "strand": "-", "slug": "clcf1" }, { "symbol": "PPP1CA", "ensemblId": "ENSG00000172531", "biotype": "protein_coding", "start": 67398176, "end": 67421183, "strand": "-", "slug": "ppp1ca" }, { "symbol": "TBC1D10C", "ensemblId": "ENSG00000175463", "biotype": "protein_coding", "start": 67398454, "end": 67410092, "strand": "+", "slug": "tbc1d10c" }, { "symbol": "CARNS1", "ensemblId": "ENSG00000172508", "biotype": "protein_coding", "start": 67414968, "end": 67425613, "strand": "+", "slug": "carns1" }, { "symbol": "RPS6KB2", "ensemblId": "ENSG00000175634", "biotype": "protein_coding", "start": 67428442, "end": 67435414, "strand": "+", "slug": "rps6kb2" }, { "symbol": "CORO1B", "ensemblId": "ENSG00000172725", "biotype": "protein_coding", "start": 67435510, "end": 67443828, "strand": "-", "slug": "coro1b" }, { "symbol": "PTPRCAP", "ensemblId": "ENSG00000213402", "biotype": "protein_coding", "start": 67435510, "end": 67437682, "strand": "-", "slug": "ptprcap" }, { "symbol": "GPR152", "ensemblId": "ENSG00000175514", "biotype": "protein_coding", "start": 67451301, "end": 67452729, "strand": "-", "slug": "gpr152" }, { "symbol": "CABP4", "ensemblId": "ENSG00000175544", "biotype": "protein_coding", "start": 67452406, "end": 67461752, "strand": "+", "slug": "cabp4" }, { "symbol": "TMEM134", "ensemblId": "ENSG00000172663", "biotype": "protein_coding", "start": 67461710, "end": 67469291, "strand": "-", "slug": "tmem134" }, { "symbol": "AIP", "ensemblId": "ENSG00000110711", "biotype": "protein_coding", "start": 67468174, "end": 67492034, "strand": "+", "slug": "aip" }, { "symbol": "PITPNM1", "ensemblId": "ENSG00000110697", "biotype": "protein_coding", "start": 67491075, "end": 67506263, "strand": "-", "slug": "pitpnm1" }, { "symbol": "CDK2AP2", "ensemblId": "ENSG00000167797", "biotype": "protein_coding", "start": 67506490, "end": 67508701, "strand": "-", "slug": "cdk2ap2" }, { "symbol": "CABP2", "ensemblId": "ENSG00000167791", "biotype": "protein_coding", "start": 67518912, "end": 67524517, "strand": "-", "slug": "cabp2" }, { "symbol": "GSTP1", "ensemblId": "ENSG00000084207", "biotype": "protein_coding", "start": 67583523, "end": 67592110, "strand": "+", "slug": "gstp1" }, { "symbol": "NUDT8", "ensemblId": "ENSG00000167799", "biotype": "protein_coding", "start": 67627937, "end": 67630112, "strand": "-", "slug": "nudt8" }, { "symbol": "TBX10", "ensemblId": "ENSG00000167800", "biotype": "protein_coding", "start": 67631303, "end": 67639767, "strand": "-", "slug": "tbx10" }, { "symbol": "ACY3", "ensemblId": "ENSG00000132744", "biotype": "protein_coding", "start": 67642551, "end": 67650900, "strand": "-", "slug": "acy3" }, { "symbol": "ALDH3B2", "ensemblId": "ENSG00000132746", "biotype": "protein_coding", "start": 67662155, "end": 67681224, "strand": "-", "slug": "aldh3b2" }, { "symbol": "UNC93B1", "ensemblId": "ENSG00000110057", "biotype": "protein_coding", "start": 67991100, "end": 68004982, "strand": "-", "slug": "unc93b1" }, { "symbol": "ALDH3B1", "ensemblId": "ENSG00000006534", "biotype": "protein_coding", "start": 68008543, "end": 68029282, "strand": "+", "slug": "aldh3b1" }, { "symbol": "NDUFS8", "ensemblId": "ENSG00000110717", "biotype": "protein_coding", "start": 68030617, "end": 68036649, "strand": "+", "slug": "ndufs8" }, { "symbol": "TCIRG1", "ensemblId": "ENSG00000110719", "biotype": "protein_coding", "start": 68038977, "end": 68050899, "strand": "+", "slug": "tcirg1" }, { "symbol": "CHKA", "ensemblId": "ENSG00000110721", "biotype": "protein_coding", "start": 68052848, "end": 68121449, "strand": "-", "slug": "chka" } ], "truncated": false }, "reports": [ { "slug": "leigh-syndrome", "name": "Leighs syndrom", "diseases": [ { "mondoId": "MONDO:0009723", "name": "Leighs syndrom", "genes": 69, "inheritance": null, "description": "En progressiv neurologisk sjukdom som definieras av specifika neuropatologiska drag, med skador i hjärnstammen och basala ganglier.", "management": null, "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/leigh-syndrome" }, { "slug": "primary-mitochondrial-disease", "name": "Primär mitokondriell sjukdom", "diseases": [ { "mondoId": "MONDO:0000066", "name": "Brist på mitokondriella andningskedjekomplex", "genes": 61, "inheritance": null, "description": "Isolerad brist på komplex I, II, III, IV eller V, orsakad av varianter i kärngener eller mitokondriella gener. Den kan påverka hjärnan, musklerna, hjärtat, levern och andra organ med högt energibehov.", "management": "Kunskapen kan avsluta en diagnostisk sökning och vägleda uppföljning av drabbade organ och undvikande av läkemedel som är toxiska för mitokondrierna.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-mitochondria-in-muscle-tissue", "name": "Abnormal mitochondria in muscle tissue", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-mitochondria-in-muscle-tissue" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "apnea", "name": "Apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/apnea" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "brain-atrophy", "name": "Brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/brain-atrophy" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "optic-neuropathy", "name": "Damaged optic nerve", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/optic-neuropathy" }, { "slug": "decreased-activity-of-mitochondrial-complex-i", "name": "Decreased activity of mitochondrial complex I", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "fetal-distress", "name": "Fetal distress", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fetal-distress" }, { "slug": "focal-t2-hyperintense-brainstem-lesion", "name": "Focal T2 hyperintense brainstem lesion", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/focal-t2-hyperintense-brainstem-lesion" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "increased-circulating-pyruvate-concentration", "name": "Increased circulating pyruvate concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration" }, { "slug": "increased-csf-lactate", "name": "Increased CSF lactate", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-csf-lactate" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "slug": "mitochondrial-myopathy", "name": "Mitochondrial myopathy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mitochondrial-myopathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "paroxysmal-involuntary-eye-movements", "name": "Paroxysmal involuntary eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/paroxysmal-involuntary-eye-movements" }, { "slug": "reduced-eye-contact", "name": "Poor eye contact", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-eye-contact" }, { "slug": "poor-head-control", "name": "Poor head control", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/poor-head-control" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "proximal-tubulopathy", "name": "Proximal tubulopathy", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/proximal-tubulopathy" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "cox10", "symbol": "COX10", "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10", "shared": 2, "url": "https://dantelabs.com/sv/genes/cox10" }, { "slug": "foxred1", "symbol": "FOXRED1", "name": "FAD dependent oxidoreductase domain containing 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/foxred1" }, { "slug": "lrpprc", "symbol": "LRPPRC", "name": "leucine rich pentatricopeptide repeat containing", "shared": 2, "url": "https://dantelabs.com/sv/genes/lrpprc" }, { "slug": "ndufa1", "symbol": "NDUFA1", "name": "NADH:ubiquinone oxidoreductase subunit A1", "shared": 2, "url": "https://dantelabs.com/sv/genes/ndufa1" }, { "slug": "ndufa13", "symbol": "NDUFA13", "name": "NADH:ubiquinone oxidoreductase subunit A13", "shared": 2, "url": "https://dantelabs.com/sv/genes/ndufa13" }, { "slug": "ndufa2", "symbol": "NDUFA2", "name": "NADH:ubiquinone oxidoreductase subunit A2", "shared": 2, "url": "https://dantelabs.com/sv/genes/ndufa2" }, { "slug": "ndufa9", "symbol": "NDUFA9", "name": "NADH:ubiquinone oxidoreductase subunit A9", "shared": 2, "url": "https://dantelabs.com/sv/genes/ndufa9" }, { "slug": "ndufaf2", "symbol": "NDUFAF2", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/ndufaf2" }, { "slug": "ndufaf5", "symbol": "NDUFAF5", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5", "shared": 2, "url": "https://dantelabs.com/sv/genes/ndufaf5" }, { "slug": "ndufaf6", "symbol": "NDUFAF6", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6", "shared": 2, "url": "https://dantelabs.com/sv/genes/ndufaf6" }, { "slug": "ndufaf8", "symbol": "NDUFAF8", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8", "shared": 2, "url": "https://dantelabs.com/sv/genes/ndufaf8" }, { "slug": "ndufb8", "symbol": "NDUFB8", "name": "NADH:ubiquinone oxidoreductase subunit B8", "shared": 2, "url": "https://dantelabs.com/sv/genes/ndufb8" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }