{ "url": "https://dantelabs.com/sv/genes/mybpc3", "gene": { "slug": "mybpc3", "symbol": "MYBPC3", "name": "myosin binding protein C3", "hgnc": "HGNC:7551", "summary": null, "location": "11p11.2", "locusType": "gene with protein product", "aliases": [ "FHC", "cMyBP-C" ], "previousSymbols": [ "CMH4" ], "ensemblId": "ENSG00000134571", "entrezId": 4607, "omim": [ "600958" ], "uniprot": [ "Q14896" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 47331406, "end": 47352702, "strand": "-", "ensemblTranscript": "ENST00000545968.6", "refseqTranscript": "NM_000256.3", "ensemblProtein": "ENSP00000442795.1", "refseqProtein": "NP_000247.2", "exons": [ { "start": 47331406, "end": 47331716 }, { "start": 47331845, "end": 47331881 }, { "start": 47332072, "end": 47332258 }, { "start": 47332566, "end": 47332702 }, { "start": 47332814, "end": 47332973 }, { "start": 47333194, "end": 47333333 }, { "start": 47333557, "end": 47333752 }, { "start": 47333922, "end": 47334010 }, { 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"start": 47351239, "end": 47351505 }, { "start": 47352623, "end": 47352702 } ], "cds": { "start": 47331871, "end": 47352647 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 47352957, "end": 47374253, "strand": "-" }, "neighbourhood": { "release": "116", "start": 46842054, "end": 47842053, "genes": [ { "symbol": "CKAP5", "ensemblId": "ENSG00000175216", "biotype": "protein_coding", "start": 46742768, "end": 46846308, "strand": "-", "slug": "ckap5" }, { "symbol": "LRP4", "ensemblId": "ENSG00000134569", "biotype": "protein_coding", "start": 46856717, "end": 46918642, "strand": "-", "slug": "lrp4" }, { "symbol": "CSTPP1", "ensemblId": "ENSG00000149179", "biotype": "protein_coding", "start": 46936689, "end": 47165535, "strand": "+", "slug": "cstpp1" }, { "symbol": "ARFGAP2", "ensemblId": "ENSG00000149182", "biotype": "protein_coding", "start": 47135667, "end": 47177474, "strand": "-", "slug": "arfgap2" }, { "symbol": "PACSIN3", "ensemblId": "ENSG00000165912", "biotype": "protein_coding", "start": 47177511, "end": 47187487, "strand": "-", "slug": "pacsin3" }, { "symbol": "DDB2", "ensemblId": "ENSG00000134574", "biotype": "protein_coding", "start": 47214435, "end": 47240555, "strand": "+", "slug": "ddb2" }, { "symbol": "ACP2", "ensemblId": "ENSG00000134575", "biotype": "protein_coding", "start": 47237598, "end": 47249288, "strand": "-", "slug": "acp2" }, { "symbol": "NR1H3", "ensemblId": "ENSG00000025434", "biotype": "protein_coding", "start": 47248300, "end": 47269131, "strand": "+", "slug": "nr1h3" }, { "symbol": "MADD", "ensemblId": "ENSG00000110514", "biotype": "protein_coding", "start": 47269161, "end": 47330038, "strand": "+", "slug": "madd" }, { "symbol": "SPI1", "ensemblId": "ENSG00000066336", "biotype": "protein_coding", "start": 47354860, "end": 47409369, "strand": "-", "slug": "spi1" }, { "symbol": "SLC39A13", "ensemblId": "ENSG00000165915", "biotype": "protein_coding", "start": 47407132, "end": 47416587, "strand": "+", "slug": "slc39a13" }, { "symbol": "PSMC3", "ensemblId": "ENSG00000165916", "biotype": "protein_coding", "start": 47418765, "end": 47426488, "strand": "-", "slug": "psmc3" }, { "symbol": "RAPSN", "ensemblId": "ENSG00000165917", "biotype": "protein_coding", "start": 47436816, "end": 47449192, "strand": "-", "slug": "rapsn" }, { "symbol": "CELF1", "ensemblId": "ENSG00000149187", "biotype": "protein_coding", "start": 47465933, "end": 47565569, "strand": "-", "slug": "celf1" }, { "symbol": "NDUFS3", "ensemblId": "ENSG00000213619", "biotype": "protein_coding", "start": 47565336, "end": 47584565, "strand": "+", "slug": "ndufs3" }, { "symbol": "PTPMT1", "ensemblId": "ENSG00000110536", "biotype": "protein_coding", "start": 47565430, "end": 47573461, "strand": "+", "slug": "ptpmt1" }, { "symbol": "KBTBD4", "ensemblId": "ENSG00000123444", "biotype": "protein_coding", "start": 47572196, "end": 47578982, "strand": "-", "slug": "kbtbd4" }, { "symbol": "FAM180B", "ensemblId": "ENSG00000196666", "biotype": "protein_coding", "start": 47586207, "end": 47589195, "strand": "+", "slug": "fam180b" }, { "symbol": "C1QTNF4", "ensemblId": "ENSG00000172247", "biotype": "protein_coding", "start": 47589666, "end": 47595642, "strand": "-", "slug": "c1qtnf4" }, { "symbol": "MTCH2", "ensemblId": "ENSG00000109919", "biotype": "protein_coding", "start": 47604339, "end": 47642698, "strand": "-", "slug": "mtch2" }, { "symbol": "AGBL2", "ensemblId": "ENSG00000165923", "biotype": "protein_coding", "start": 47659591, "end": 47715389, "strand": "-", "slug": "agbl2" }, { "symbol": "FNBP4", "ensemblId": "ENSG00000109920", "biotype": "protein_coding", "start": 47716494, "end": 47767460, "strand": "-", "slug": "fnbp4" }, { "symbol": "NUP160", "ensemblId": "ENSG00000030066", "biotype": "protein_coding", "start": 47777872, "end": 47848561, "strand": "-", "slug": "nup160" } ], "truncated": false }, "reports": [ { "slug": "dilated-cardiomyopathy", "name": "Dilaterad kardiomyopati", "diseases": [ { "mondoId": "MONDO:0005021", "name": "Dilaterad kardiomyopati", "genes": 50, "inheritance": null, "description": "Förstoring och försvagning av vänster kammare som inte förklaras av kranskärls- eller klaffsjukdom. Ärftliga former involverar TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN och många andra gener, och omfattar Barths syndrom och Emery-Dreifuss muskeldystrofi.", "management": "Att känna till en genetisk orsak underlättar tidigare hjärtkontroller och screening av släktingar. För gener med hög risk för arytmi, som LMNA, FLNC och RBM20, ligger den till grund för beslut om rytmövervakning och implanterbara defibrillatorer.", "evidence": { "gencc": [ "Ambry Genetics" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/dilated-cardiomyopathy" }, { "slug": "left-ventricular-noncompaction", "name": "Vänsterkammarnoncompaction", "diseases": [ { "mondoId": "MONDO:0018901", "name": "Vänsterkammarnoncompaction", "genes": 6, "inheritance": null, "description": "Ett hjärtmuskelsjukdom med ett tjockt, svampigt inre skikt i vänster kammare, kopplad till sarkomergener som MYH7, ACTC1, TNNT2, TPM1 och MYBPC3, samt till LDB3, PRDM16 och MIB1.", "management": "Kunskap om tillståndet underlättar hjärtundersökningar med bildteknik, uppföljning av hjärtrytmen och screening av släktingar.", "evidence": { "gencc": [ "Ambry Genetics" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/left-ventricular-noncompaction" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Hypertrofisk kardiomyopati", "diseases": [ { "mondoId": "MONDO:0005045", "name": "Hypertrofisk kardiomyopati", "genes": 62, "inheritance": "autosomal-dominant", "description": "Ett tillstånd där hjärtmuskeln är förtjockad utan någon uppenbar orsak. Förtjockningen är i regel asymmetrisk och kan vara förknippad med obstruktion av utflödesbanan från kammaren.", "management": "Betablockerare, icke-dihydropyridin-kalciumkanalblockerare, begränsning av fysisk aktivitet, genetisk rådgivning", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/hypertrophic-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "ascites", "name": "Accumulation of fluid in the abdomen", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ascites" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "chest-pain", "name": "Chest pain", "systems": [ "constitutional-symptom" ], "url": "https://dantelabs.com/traits/chest-pain" }, { "slug": "complete-right-bundle-branch-block", "name": "Complete right bundle branch block", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/complete-right-bundle-branch-block" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "cardiomegaly", "name": "Enlarged heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cardiomegaly" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "pulmonary-edema", "name": "Excess fluid in lungs", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-edema" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "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": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "first-degree-atrioventricular-block", "name": "First degree atrioventricular block", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/first-degree-atrioventricular-block" }, { "slug": "pericardial-effusion", "name": "Fluid around heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/pericardial-effusion" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "cardiac-arrest", "name": "Heart stops beating", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/cardiac-arrest" }, { "slug": "pulmonary-arterial-hypertension", "name": "Increased blood pressure in blood vessels of lungs", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension" }, { "slug": "increased-left-ventricular-end-diastolic-volume", "name": "Increased left ventricular end-diastolic volume", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-left-ventricular-end-diastolic-volume" }, { "slug": "atrioventricular-block", "name": "Interruption of electrical communication between upper and lower chambers of heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/atrioventricular-block" }, { "slug": "left-bundle-branch-block", "name": "Left bundle branch block", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/left-bundle-branch-block" }, { "slug": "left-ventricular-noncompaction", "name": "Left ventricular noncompaction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/left-ventricular-noncompaction" }, { "slug": "left-ventricular-systolic-dysfunction", "name": "Left ventricular systolic dysfunction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction" }, { "slug": "lipoatrophy", "name": "Loss of fat tissue in localized area", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lipoatrophy" }, { "slug": "transient-ischemic-attack", "name": "Mini stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/transient-ischemic-attack" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "muscular-ventricular-septal-defect", "name": "Muscular ventricular septal defect", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscular-ventricular-septal-defect" }, { "slug": "myofiber-disarray", "name": "Myofiber disarray", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myofiber-disarray" }, { "slug": "orthopnea", "name": "Orthopnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/orthopnea" }, { "slug": "reduced-left-ventricular-ejection-fraction", "name": "Reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-left-ventricular-ejection-fraction" }, { "slug": "right-atrial-enlargement", "name": "Right atrial enlargement", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/right-atrial-enlargement" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "stroke", "name": "Stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stroke" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "thromboembolic-stroke", "name": "Thromboembolic stroke", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolic-stroke" }, { "slug": "ventricular-fibrillation", "name": "Ventricular fibrillation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/ventricular-fibrillation" }, { "slug": "ventricular-hypertrophy", "name": "Ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventricular-hypertrophy" }, { "slug": "ventricular-septal-hypertrophy", "name": "Ventricular septal hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventricular-septal-hypertrophy" } ], "related": [ { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 3, "url": "https://dantelabs.com/sv/genes/actc1" }, { "slug": "ldb3", "symbol": "LDB3", "name": "LIM domain binding 3", "shared": 3, "url": "https://dantelabs.com/sv/genes/ldb3" }, { "slug": "myh7", "symbol": "MYH7", "name": "myosin heavy chain 7", "shared": 3, "url": "https://dantelabs.com/sv/genes/myh7" }, { "slug": "tnnt2", "symbol": "TNNT2", "name": "troponin T2, cardiac type", "shared": 3, "url": "https://dantelabs.com/sv/genes/tnnt2" }, { "slug": "tpm1", "symbol": "TPM1", "name": "tropomyosin 1", "shared": 3, "url": "https://dantelabs.com/sv/genes/tpm1" }, { "slug": "flnc", "symbol": "FLNC", "name": "filamin C", "shared": 2, "url": "https://dantelabs.com/sv/genes/flnc" }, { "slug": "jph2", "symbol": "JPH2", "name": "junctophilin 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/jph2" }, { "slug": "mypn", "symbol": "MYPN", "name": "myopalladin", "shared": 2, "url": "https://dantelabs.com/sv/genes/mypn" }, { "slug": "pln", "symbol": "PLN", "name": "phospholamban", "shared": 2, "url": "https://dantelabs.com/sv/genes/pln" }, { "slug": "raf1", "symbol": "RAF1", "name": "Raf-1 proto-oncogene, serine/threonine kinase", "shared": 2, "url": "https://dantelabs.com/sv/genes/raf1" }, { "slug": "tcap", "symbol": "TCAP", "name": "titin-cap", "shared": 2, "url": "https://dantelabs.com/sv/genes/tcap" }, { "slug": "tnnc1", "symbol": "TNNC1", "name": "troponin C1, slow skeletal and cardiac type", "shared": 2, "url": "https://dantelabs.com/sv/genes/tnnc1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 212, "url": "https://dantelabs.com/genes/mybpc3/variants", "items": [ { "slug": "r495g", "name": "R495G", "commonName": null, "symbol": "MYBPC3", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1483C>G", "position": 47342719, "grch37Position": 47364270, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/mybpc3/variants/r495g" }, { "slug": "r495q", "name": "R495Q", "commonName": null, "symbol": "MYBPC3", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1484G>A", "position": 47342718, "grch37Position": 47364269, "part": { "kind": "exon", "number": 17 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