{ "url": "https://dantelabs.com/da/genes/c6", "gene": { "slug": "c6", "symbol": "C6", "name": "complement C6", "hgnc": "HGNC:1339", "summary": null, "location": "5p13.1", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000039537", "entrezId": 729, "omim": [ "217050" ], "uniprot": [ "P13671" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "5", "start": 41142116, "end": 41213532, "strand": "-", "ensemblTranscript": "ENST00000337836.10", "refseqTranscript": "NM_000065.5", "ensemblProtein": "ENSP00000338861.5", "refseqProtein": "NP_000056.2", "exons": [ { "start": 41142116, "end": 41143006 }, { "start": 41149241, "end": 41149482 }, { "start": 41149935, "end": 41150025 }, { "start": 41153810, "end": 41153998 }, { "start": 41154972, "end": 41155104 }, { "start": 41158674, "end": 41158785 }, { "start": 41159082, "end": 41159253 }, { "start": 41160142, "end": 41160367 }, { "start": 41161693, "end": 41161859 }, { "start": 41172225, "end": 41172347 }, { "start": 41176475, "end": 41176715 }, { "start": 41181359, "end": 41181559 }, { "start": 41186070, "end": 41186208 }, { "start": 41195792, "end": 41195933 }, { "start": 41199768, "end": 41199912 }, { "start": 41201558, "end": 41201714 }, { "start": 41203088, "end": 41203250 }, { "start": 41213376, "end": 41213532 } ], "cds": { "start": 41142825, "end": 41203230 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "5", "start": 41142336, "end": 41261540, "strand": "-" }, "neighbourhood": { "release": "116", "start": 40677824, "end": 41677823, "genes": [ { "symbol": "TTC33", "ensemblId": "ENSG00000113638", "biotype": "protein_coding", "start": 40512218, "end": 40755975, "strand": "-", "slug": "ttc33" }, { "symbol": "PTGER4", "ensemblId": "ENSG00000171522", "biotype": "protein_coding", "start": 40679441, "end": 40693753, "strand": "+", "slug": "ptger4" }, { "symbol": "PRKAA1", "ensemblId": "ENSG00000132356", "biotype": "protein_coding", "start": 40759389, "end": 40798374, "strand": "-", "slug": "prkaa1" }, { "symbol": "RPL37", "ensemblId": "ENSG00000145592", "biotype": "protein_coding", "start": 40822128, "end": 40835336, "strand": "-", "slug": "rpl37" }, { "symbol": "CARD6", "ensemblId": "ENSG00000132357", "biotype": "protein_coding", "start": 40841175, "end": 40860175, "strand": "+", "slug": "card6" }, { "symbol": "C7", "ensemblId": "ENSG00000112936", "biotype": "protein_coding", "start": 40909416, "end": 41020216, "strand": "+", "slug": "c7" }, { "symbol": "MROH2B", "ensemblId": "ENSG00000171495", "biotype": "protein_coding", "start": 40998017, "end": 41071342, "strand": "-", "slug": "mroh2b" }, { "symbol": "PLCXD3", "ensemblId": "ENSG00000182836", "biotype": "protein_coding", "start": 41306952, "end": 41510784, "strand": "-", "slug": "plcxd3" } ], "truncated": false }, "reports": [ { "slug": "complement-and-properdin-deficiencies", "name": "Arvelige mangler i komplementsystemet og properdin", "diseases": [ { "mondoId": "MONDO:0015700", "name": "Mangel på senere komplementkomponenter (C5 til C9)", "genes": 6, "inheritance": "autosomal-recessive", "description": "Mangler på de terminale komplementkomponenter, som i høj grad øger risikoen for tilbagevendende Neisseria-infektioner, især meningokoksygdom.", "management": "Vaccination mod meningokokker og i nogle tilfælde profylaktisk antibiotikabehandling anbefales.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/da/conditions/complement-and-properdin-deficiencies" }, { "slug": "immunodeficiency-disease", "name": "Andre medfødte immunsvigt", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Medfødt immundefekt", "genes": 114, "inheritance": null, "description": "Arvelige sygdomme i immunsystemet, forårsaget af ændringer i enkelte gener, som påvirker kroppens evne til at bekæmpe infektioner eller regulere inflammation.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "Immunsvigtsygdom", "genes": 170, "inheritance": null, "description": "Sygdom, hvor der er mangel på eller defekt i immunforsvarets mekanismer, enten cellulære eller humorale.", "management": "HSCT ved SCID og alvorlige PID'er; immunglobulinbehandling (IVIG/SCIG) ved antistofmangel; leniolisib (Joenja, FDA 2023) ved APDS; genterapi ved ADA-SCID; abatacept ved CTLA4-/LRBA-mangel; profylaktiske antibiotika; G-CSF ved CGD", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/da/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "decreased-circulating-complement-c6-concentration", "name": "Decreased circulating complement C6 concentration", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-complement-c6-concentration" }, { "slug": "recurrent-neisseria-meningitidis-infection", "name": "Increased susceptibility to neisseria meningitidis infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-neisseria-meningitidis-infection" }, { "slug": "reduced-circulating-ch50-activity", "name": "Reduced circulating CH50 activity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-circulating-ch50-activity" } ], "related": [ { "slug": "c5", "symbol": "C5", "name": "complement C5", "shared": 3, "url": "https://dantelabs.com/da/genes/c5" }, { "slug": "c7", "symbol": "C7", "name": "complement C7", "shared": 3, "url": "https://dantelabs.com/da/genes/c7" }, { "slug": "c8a", "symbol": "C8A", "name": "complement C8 alpha chain", "shared": 3, "url": "https://dantelabs.com/da/genes/c8a" }, { "slug": "c8b", "symbol": "C8B", "name": "complement C8 beta chain", "shared": 3, "url": "https://dantelabs.com/da/genes/c8b" }, { "slug": "c9", "symbol": "C9", "name": "complement C9", "shared": 3, "url": "https://dantelabs.com/da/genes/c9" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/da/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/da/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/da/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/da/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 2, "url": "https://dantelabs.com/da/genes/blnk" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/da/genes/btk" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 2, "url": "https://dantelabs.com/da/genes/c1qa" } ], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }