{ "url": "https://dantelabs.com/nl/genes/vkorc1", "gene": { "slug": "vkorc1", "symbol": "VKORC1", "name": "vitamin K epoxide reductase complex subunit 1", "hgnc": "HGNC:23663", "summary": null, "location": "16p11.2", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "VKCFD2" ], "ensemblId": "ENSG00000167397", "entrezId": 79001, "omim": [ "608547" ], "uniprot": [ "Q9BQB6" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 31090854, "end": 31094797, "strand": "-", "ensemblTranscript": "ENST00000394975.3", "refseqTranscript": "NM_024006.6", "ensemblProtein": "ENSP00000378426.2", "refseqProtein": "NP_076869.1", "exons": [ { "start": 31090854, "end": 31091342 }, { "start": 31093312, "end": 31093421 }, { "start": 31094557, "end": 31094797 } ], "cds": { "start": 31091134, "end": 31094729 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "16", "start": 31102163, "end": 31107301, "strand": "-" }, "neighbourhood": { "release": "116", "start": 30592826, "end": 31592825, "genes": [ { "symbol": "ZNF689", "ensemblId": "ENSG00000156853", "biotype": "protein_coding", "start": 30602558, "end": 30624012, "strand": "-", "slug": "znf689" }, { "symbol": "", "ensemblId": "ENSG00000289491", "biotype": "protein_coding", "start": 30610211, "end": 30610351, "strand": "-" }, { "symbol": "PRR14", "ensemblId": "ENSG00000156858", "biotype": "protein_coding", "start": 30650696, "end": 30656427, "strand": "+", "slug": "prr14" }, { "symbol": "FBRS", "ensemblId": "ENSG00000156860", "biotype": "protein_coding", "start": 30658431, "end": 30670810, "strand": "+", "slug": "fbrs" }, { "symbol": "SRCAP", "ensemblId": "ENSG00000080603", "biotype": "protein_coding", "start": 30698128, "end": 30741409, "strand": "+", "slug": "srcap" }, { "symbol": "", "ensemblId": "ENSG00000282034", "biotype": "protein_coding", "start": 30704067, "end": 30745169, "strand": "+" }, { "symbol": "TMEM265", "ensemblId": "ENSG00000281991", "biotype": "protein_coding", "start": 30737880, "end": 30745196, "strand": "+", "slug": "tmem265" }, { "symbol": "PHKG2", "ensemblId": "ENSG00000156873", "biotype": "protein_coding", "start": 30748245, "end": 30761176, "strand": "+", "slug": "phkg2" }, { "symbol": "CFAP119", "ensemblId": "ENSG00000196118", "biotype": "protein_coding", "start": 30757423, "end": 30762221, "strand": "-", "slug": "cfap119" }, { "symbol": "RNF40", "ensemblId": "ENSG00000103549", "biotype": "protein_coding", "start": 30761561, "end": 30780421, "strand": "+", "slug": "rnf40" }, { "symbol": "ZNF629", "ensemblId": "ENSG00000102870", "biotype": "protein_coding", "start": 30778456, "end": 30787214, "strand": "-", "slug": "znf629" }, { "symbol": "BCL7C", "ensemblId": "ENSG00000099385", "biotype": "protein_coding", "start": 30818695, "end": 30894302, "strand": "-", "slug": "bcl7c" }, { "symbol": "CTF1", "ensemblId": "ENSG00000150281", "biotype": "protein_coding", "start": 30896607, "end": 30903547, "strand": "+", "slug": "ctf1" }, { "symbol": "FBXL19", "ensemblId": "ENSG00000099364", "biotype": "protein_coding", "start": 30923055, "end": 30948783, "strand": "+", "slug": "fbxl19" }, { "symbol": "ORAI3", "ensemblId": "ENSG00000175938", "biotype": "protein_coding", "start": 30949055, "end": 30956511, "strand": "+", "slug": "orai3" }, { "symbol": "SETD1A", "ensemblId": "ENSG00000099381", "biotype": "protein_coding", "start": 30957294, "end": 30984664, "strand": "+", "slug": "setd1a" }, { "symbol": "HSD3B7", "ensemblId": "ENSG00000099377", "biotype": "protein_coding", "start": 30985029, "end": 30989154, "strand": "+", "slug": "hsd3b7" }, { "symbol": "STX1B", "ensemblId": "ENSG00000099365", "biotype": "protein_coding", "start": 30989256, "end": 31010897, "strand": "-", "slug": "stx1b" }, { "symbol": "STX4", "ensemblId": "ENSG00000103496", "biotype": "protein_coding", "start": 31032889, "end": 31042975, "strand": "+", "slug": "stx4" }, { "symbol": "ZNF668", "ensemblId": "ENSG00000167394", "biotype": "protein_coding", "start": 31059772, "end": 31074240, "strand": "-", "slug": "znf668" }, { "symbol": "ZNF646", "ensemblId": "ENSG00000167395", "biotype": "protein_coding", "start": 31074394, "end": 31084196, "strand": "+", "slug": "znf646" }, { "symbol": "PRSS53", "ensemblId": "ENSG00000151006", "biotype": "protein_coding", "start": 31083437, "end": 31089628, "strand": "-", "slug": "prss53" }, { "symbol": "", "ensemblId": "ENSG00000255439", "biotype": "protein_coding", "start": 31083439, "end": 31094956, "strand": "-" }, { "symbol": "BCKDK", "ensemblId": "ENSG00000103507", "biotype": "protein_coding", "start": 31106107, "end": 31113464, "strand": "+", "slug": "bckdk" }, { "symbol": "KAT8", "ensemblId": "ENSG00000103510", "biotype": "protein_coding", "start": 31114489, "end": 31131396, "strand": "+", "slug": "kat8" }, { "symbol": "PRSS8", "ensemblId": "ENSG00000052344", "biotype": "protein_coding", "start": 31131433, "end": 31135727, "strand": "-", "slug": "prss8" }, { "symbol": "PRSS36", "ensemblId": "ENSG00000178226", "biotype": "protein_coding", "start": 31138926, "end": 31150213, "strand": "-", "slug": "prss36" }, { "symbol": "FUS", "ensemblId": "ENSG00000089280", "biotype": "protein_coding", "start": 31180131, "end": 31196963, "strand": "+", "slug": "fus" }, { "symbol": "PYCARD", "ensemblId": "ENSG00000103490", "biotype": "protein_coding", "start": 31201486, "end": 31203450, "strand": "-", "slug": "pycard" }, { "symbol": "TRIM72", "ensemblId": "ENSG00000177238", "biotype": "protein_coding", "start": 31214017, "end": 31231537, "strand": "+", "slug": "trim72" }, { "symbol": "PYDC1", "ensemblId": "ENSG00000169900", "biotype": "protein_coding", "start": 31215962, "end": 31217162, "strand": "-", "slug": "pydc1" }, { "symbol": "ITGAM", "ensemblId": "ENSG00000169896", "biotype": "protein_coding", "start": 31259954, "end": 31332892, "strand": "+", "slug": "itgam" }, { "symbol": "ITGAX", "ensemblId": "ENSG00000140678", "biotype": "protein_coding", "start": 31355134, "end": 31382999, "strand": "+", "slug": "itgax" }, { "symbol": "ITGAD", "ensemblId": "ENSG00000156886", "biotype": "protein_coding", "start": 31393258, "end": 31426505, "strand": "+", "slug": "itgad" }, { "symbol": "COX6A2", "ensemblId": "ENSG00000156885", "biotype": "protein_coding", "start": 31427731, "end": 31428433, "strand": "-", "slug": "cox6a2" }, { "symbol": "ZNF843", "ensemblId": "ENSG00000176723", "biotype": "protein_coding", "start": 31432593, "end": 31444323, "strand": "-", "slug": "znf843" }, { "symbol": "ARMC5", "ensemblId": "ENSG00000140691", "biotype": "protein_coding", "start": 31458080, "end": 31467172, "strand": "+", "slug": "armc5" }, { "symbol": "TGFB1I1", "ensemblId": "ENSG00000140682", "biotype": "protein_coding", "start": 31471585, "end": 31478727, "strand": "+", "slug": "tgfb1i1" }, { "symbol": "SLC5A2", "ensemblId": "ENSG00000140675", "biotype": "protein_coding", "start": 31483002, "end": 31490860, "strand": "+", "slug": "slc5a2" }, { "symbol": "RUSF1", "ensemblId": "ENSG00000140688", "biotype": "protein_coding", "start": 31489465, "end": 31509309, "strand": "-", "slug": "rusf1" }, { "symbol": "AHSP", "ensemblId": "ENSG00000169877", "biotype": "protein_coding", "start": 31512938, "end": 31528808, "strand": "+", "slug": "ahsp" } ], "truncated": false }, "reports": [ { "slug": "rare-inherited-coagulation-factor-deficiencies", "name": "Zeldzame erfelijke stollingsfactordeficiënties", "diseases": [ { "mondoId": "MONDO:0015722", "name": "Aangeboren vitamine K-afhankelijke stollingsfactordeficiënties", "genes": 5, "inheritance": "autosomal-recessive", "description": "Erfelijke deficiënties van protrombine (factor II), factor VII of factor X, of van alle vitamine K-afhankelijke factoren tegelijk (veroorzaakt door veranderingen in GGCX of VKORC1), die neusbloedingen, gemakkelijk blauwe plekken en bloeding na letsel, operatie of bevalling kunnen veroorzaken.", "management": "Als u dit vooraf weet, kan factorvervanging worden gepland rond operaties en bevallingen; de gecombineerde vorm reageert vaak op vitamine K.", "evidence": { "gencc": [ "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/rare-inherited-coagulation-factor-deficiencies" } ], "pharmacogenomics": [ { "slug": "pharmacogenomics", "title": "Gevoeligheid voor warfarin", "summary": "VKORC1 is het directe aangrijpingspunt van warfarin. Het -1639A-promotorallel verlaagt de expressie van VKORC1, waardoor er minder warfarin nodig is om hetzelfde effect te bereiken.", "actionable": [ "Alleen relevant als u een coumarine-antistollingsmiddel voorgeschreven krijgt; te lezen in samenhang met CYP2C9.", "Ditzelfde allel verlaagt de benodigde dosis van acenocoumarol en phenprocoumon, de coumarines die in delen van Europa gangbaarder zijn dan warfarin." ], "caveat": null, "alleles": [ { "name": "rs9923231 reference (C)", "reference": true }, { "name": "rs9923231 variant (T)", "reference": false } ], "phenotypes": [], "drugs": [ { "name": "warfarin", "cpicLevel": "A", "clinpgxLevel": "1A", "pgxTesting": "Actionable PGx", "guideline": { "name": "CYP2C9, VKORC1, CYP4F2 and Warfarin", "url": "https://www.clinpgx.org/guideline/PA166251465" } } ], "name": "Farmacogenomica", "url": "https://dantelabs.com/nl/whole-genome-sequencing/pharmacogenomics" } ], "traits": [], "phenotypes": [ { "slug": "abnormal-umbilical-stump-bleeding", "name": "Abnormal umbilical stump bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-umbilical-stump-bleeding" }, { "slug": "abnormality-of-blood-and-blood-forming-tissues", "name": "Abnormality of blood and blood-forming tissues", "systems": [], "url": "https://dantelabs.com/traits/abnormality-of-blood-and-blood-forming-tissues" }, { "slug": "menorrhagia", "name": "Abnormally heavy bleeding during menstruation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/menorrhagia" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "angioid-streaks", "name": "Angioid streaks", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/angioid-streaks" }, { "slug": "post-partum-hemorrhage", "name": "Bleeding post-delivery", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/post-partum-hemorrhage" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "joint-hemorrhage", "name": "Bleeding within a joint", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-hemorrhage" }, { "slug": "intracranial-hemorrhage", "name": "Bleeding within the skull", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intracranial-hemorrhage" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "cephalohematoma", "name": "Cephalohematoma", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cephalohematoma" }, { "slug": "decreased-level-of-heparin-co-factor-ii", "name": "Decreased level of heparin co-factor II", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-level-of-heparin-co-factor-ii" }, { "slug": "hypoplasia-of-the-nasal-bone", "name": "Decreased size of nasal bone", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-nasal-bone" }, { "slug": "ecchymosis", "name": "Ecchymosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ecchymosis" }, { "slug": "gastrointestinal-hemorrhage", "name": "Gastrointestinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage" }, { "slug": "cutis-laxa", "name": "Hanging skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cutis-laxa" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "atherosclerosis", "name": "Narrowing and hardening of arteries", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atherosclerosis" }, { "slug": "pulmonary-artery-stenosis", "name": "Narrowing of lung artery", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pulmonary-artery-stenosis" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "prolonged-bleeding-following-circumcision", "name": "Prolonged bleeding following circumcision", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-bleeding-following-circumcision" }, { "slug": "prolonged-bleeding-following-procedure", "name": "Prolonged bleeding following procedure", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-bleeding-following-procedure" }, { "slug": "prolonged-partial-thromboplastin-time", "name": "Prolonged partial thromboplastin time", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prolonged-partial-thromboplastin-time" }, { "slug": "prolonged-prothrombin-time", "name": "Prolonged prothrombin time", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prolonged-prothrombin-time" }, { "slug": "reduced-factor-ix-activity", "name": "Reduced factor IX activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-factor-ix-activity" }, { "slug": "reduced-factor-vii-activity", "name": "Reduced factor VII activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-factor-vii-activity" }, { "slug": "reduced-factor-x-activity", "name": "Reduced factor X activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-factor-x-activity" }, { "slug": "reduced-protein-c-activity", "name": "Reduced protein C activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-protein-c-activity" }, { "slug": "reduced-protein-s-activity", "name": "Reduced protein S activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-protein-s-activity" }, { "slug": "reduced-prothrombin-antigen", "name": "Reduced prothrombin antigen", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/reduced-prothrombin-antigen" }, { "slug": "shortening-of-all-distal-phalanges-of-the-fingers", "name": "Shortening of all outermost bones of the fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/shortening-of-all-distal-phalanges-of-the-fingers" }, { "slug": "epiphyseal-stippling", "name": "Speckled calcifications in end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epiphyseal-stippling" } ], "related": [ { "slug": "f10", "symbol": "F10", "name": "coagulation factor X", "shared": 1, "url": "https://dantelabs.com/nl/genes/f10" }, { "slug": "f2", "symbol": "F2", "name": "coagulation factor II, thrombin", "shared": 1, "url": "https://dantelabs.com/nl/genes/f2" }, { "slug": "f7", "symbol": "F7", "name": "coagulation factor VII", "shared": 1, "url": "https://dantelabs.com/nl/genes/f7" }, { "slug": "ggcx", "symbol": "GGCX", "name": "gamma-glutamyl carboxylase", "shared": 1, "url": "https://dantelabs.com/nl/genes/ggcx" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }