{ "url": "https://dantelabs.com/hu/genes/col4a3", "gene": { "slug": "col4a3", "symbol": "COL4A3", "name": "collagen type IV alpha 3 chain", "hgnc": "HGNC:2204", "summary": null, "location": "2q36.3", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000169031", "entrezId": 1285, "omim": [ "120070" ], "uniprot": [ "Q01955" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 227164624, "end": 227314792, "strand": "+", "ensemblTranscript": "ENST00000396578.8", "refseqTranscript": "NM_000091.5", "ensemblProtein": "ENSP00000379823.3", "refseqProtein": "NP_000082.2", "exons": [ { "start": 227164624, "end": 227164813 }, { "start": 227237968, "end": 227238024 }, { "start": 227240143, "end": 227240232 }, { "start": 227244320, "end": 227244364 }, { "start": 227244951, "end": 227244995 }, { "start": 227245954, "end": 227246016 }, { "start": 227246685, "end": 227246738 }, { "start": 227247558, "end": 227247584 }, { "start": 227248443, "end": 227248520 }, { "start": 227251140, "end": 227251202 }, { "start": 227251336, "end": 227251371 }, { "start": 227253296, "end": 227253337 }, { "start": 227253561, "end": 227253638 }, { "start": 227254112, "end": 227254174 }, { "start": 227254656, "end": 227254715 }, { "start": 227256026, "end": 227256070 }, { "start": 227256343, "end": 227256396 }, { "start": 227257603, "end": 227257644 }, { "start": 227259793, "end": 227259877 }, { "start": 227261082, "end": 227261117 }, { "start": 227263780, "end": 227263944 }, { "start": 227266417, "end": 227266509 }, { "start": 227266993, "end": 227267088 }, { "start": 227269910, "end": 227269980 }, { "start": 227270770, "end": 227270952 }, { "start": 227272949, "end": 227273117 }, { "start": 227276385, "end": 227276477 }, { "start": 227277449, "end": 227277553 }, { "start": 227279793, "end": 227279890 }, { "start": 227280440, "end": 227280590 }, { "start": 227280893, "end": 227281006 }, { "start": 227282365, "end": 227282532 }, { "start": 227283767, "end": 227283856 }, { "start": 227284211, "end": 227284345 }, { "start": 227289150, "end": 227289248 }, { "start": 227289999, "end": 227290088 }, { "start": 227290747, "end": 227290886 }, { "start": 227293191, "end": 227293317 }, { "start": 227294490, "end": 227294570 }, { "start": 227294964, "end": 227295062 }, { "start": 227295269, "end": 227295316 }, { "start": 227297674, "end": 227297859 }, { "start": 227298682, "end": 227298812 }, { "start": 227303038, "end": 227303110 }, { "start": 227303859, "end": 227303930 }, { "start": 227304019, "end": 227304144 }, { "start": 227304985, "end": 227305083 }, { "start": 227307710, "end": 227307919 }, { "start": 227308899, "end": 227309076 }, { "start": 227309204, "end": 227309318 }, { "start": 227310776, "end": 227310948 }, { "start": 227311786, "end": 227314792 } ], "cds": { "start": 227164727, "end": 227311870 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 228029281, "end": 228179508, "strand": "+" }, "neighbourhood": { "release": "116", "start": 226739708, "end": 227739707, "genes": [ { "symbol": "IRS1", "ensemblId": "ENSG00000169047", "biotype": "protein_coding", "start": 226731312, "end": 226799850, "strand": "-", "slug": "irs1" }, { "symbol": "RHBDD1", "ensemblId": "ENSG00000144468", "biotype": "protein_coding", "start": 226835581, "end": 227001006, "strand": "+", "slug": "rhbdd1" }, { "symbol": "COL4A4", "ensemblId": "ENSG00000081052", "biotype": "protein_coding", "start": 227002713, "end": 227164559, "strand": "-", "slug": "col4a4" }, { "symbol": "MFF", "ensemblId": "ENSG00000168958", "biotype": "protein_coding", "start": 227325151, "end": 227361188, "strand": "+", "slug": "mff" }, { "symbol": "TM4SF20", "ensemblId": "ENSG00000168955", "biotype": "protein_coding", "start": 227362038, "end": 227381995, "strand": "-", "slug": "tm4sf20" }, { "symbol": "SCYGR1", "ensemblId": "ENSG00000284629", "biotype": "protein_coding", "start": 227387683, "end": 227387949, "strand": "-", "slug": "scygr1" }, { "symbol": "AGFG1", "ensemblId": "ENSG00000173744", "biotype": "protein_coding", "start": 227472134, "end": 227561411, "strand": "+", "slug": "agfg1" }, { "symbol": "SCYGR2", "ensemblId": "ENSG00000284643", "biotype": "protein_coding", "start": 227598893, "end": 227599255, "strand": "+", "slug": "scygr2" }, { "symbol": "SCYGR10", "ensemblId": "ENSG00000284622", "biotype": "protein_coding", "start": 227608784, "end": 227609101, "strand": "+", "slug": "scygr10" }, { "symbol": "SCYGR3", "ensemblId": "ENSG00000284704", "biotype": "protein_coding", "start": 227614538, "end": 227614840, "strand": "-", "slug": "scygr3" }, { "symbol": "SCYGR4", "ensemblId": "ENSG00000284631", "biotype": "protein_coding", "start": 227617498, "end": 227617815, "strand": "+", "slug": "scygr4" }, { "symbol": "SCYGR5", "ensemblId": "ENSG00000284667", "biotype": "protein_coding", "start": 227666804, "end": 227667061, "strand": "+", "slug": "scygr5" }, { "symbol": "SLC19A3", "ensemblId": "ENSG00000135917", "biotype": "protein_coding", "start": 227683763, "end": 227718088, "strand": "-", "slug": "slc19a3" }, { "symbol": "SCYGR6", "ensemblId": "ENSG00000284725", "biotype": "protein_coding", "start": 227724440, "end": 227724757, "strand": "-", "slug": "scygr6" }, { "symbol": "SCYGR7", "ensemblId": "ENSG00000284718", "biotype": "protein_coding", "start": 227728335, "end": 227728625, "strand": "+", "slug": "scygr7" } ], "truncated": false }, "reports": [ { "slug": "alport-syndrome", "name": "Alport Syndrome", "diseases": [ { "mondoId": "MONDO:0018965", "name": "Alport Syndrome", "genes": 3, "inheritance": null, "description": "A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.", "management": "ACE inhibitors (ramipril, first-line, ideally before proteinuria); ARBs if ACEi-intolerant; kidney transplantation for ESRD; hearing aids; annual ophthalmological and audiological monitoring", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "Myriad Women's Health", "Natera" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/alport-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "albuminuria", "name": "Albuminuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/albuminuria" }, { "slug": "anterior-lenticonus", "name": "Anterior lenticonus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anterior-lenticonus" }, { "slug": "anterior-polar-cataract", "name": "Anterior polar cataract", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/anterior-polar-cataract" }, { "slug": "azotemia", "name": "Azotemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/azotemia" }, { "slug": "bilateral-sensorineural-hearing-impairment", "name": "Bilateral sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "macroscopic-hematuria", "name": "Bloody urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macroscopic-hematuria" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/myopia" }, { "slug": "developmental-cataract", "name": "Clouding of the lens of the eye at birth", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/developmental-cataract" }, { "slug": "corneal-dystrophy", "name": "Corneal dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/corneal-dystrophy" }, { "slug": "corneal-erosion", "name": "Damage to outer layer of the cornea of the eye", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/corneal-erosion" }, { "slug": "hypoparathyroidism", "name": "Decreased parathyroid hormone secretion", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/hypoparathyroidism" }, { "slug": "diffuse-leiomyomatosis", "name": "Diffuse leiomyomatosis", "systems": [ "neoplasm" ], "url": "https://dantelabs.com/traits/diffuse-leiomyomatosis" }, { "slug": "diffuse-mesangial-sclerosis", "name": "Diffuse mesangial sclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "foamy-urine", "name": "Foamy urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foamy-urine" }, { "slug": "focal-retinal-arteriolar-constriction", "name": "Focal retinal arteriolar constriction", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/focal-retinal-arteriolar-constriction" }, { "slug": "focal-segmental-glomerulosclerosis", "name": "Focal segmental glomerulosclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis" }, { "slug": "glomerular-basement-membrane-lamellation", "name": "Glomerular basement membrane lamellation", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/glomerular-basement-membrane-lamellation" }, { "slug": "glomerulonephritis", "name": "Glomerulonephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/glomerulonephritis" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "hypertensive-retinopathy", "name": "Hypertensive retinopathy", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertensive-retinopathy" }, { "slug": "ichthyosis", "name": "Ichthyosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/ichthyosis" }, { "slug": "nephrocalcinosis", "name": "Increased calcium level in kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/nephrocalcinosis" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "nephritis", "name": "Kidney inflammation", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/nephritis" }, { "slug": "lenticonus", "name": "Lenticonus", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lenticonus" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "hypophosphatemia", "name": "Low blood phosphate level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypophosphatemia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "minimal-change-glomerulonephritis", "name": "Minimal change glomerulonephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/minimal-change-glomerulonephritis" }, { "slug": "multiple-renal-cysts", "name": "Multiple kidney cysts", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-renal-cysts" }, { "slug": "nephrotic-syndrome", "name": "Nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nephrotic-syndrome" }, { "slug": "periorbital-edema", "name": "Periorbital edema", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/periorbital-edema" }, { "slug": "peritonitis", "name": "Peritonitis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/peritonitis" }, { "slug": "recurrent-corneal-erosions", "name": "Recurrent breakdown of clear protective layer of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/recurrent-corneal-erosions" }, { "slug": "reduced-epidermal-collagen-iv-alpha-5-chain-staining", "name": "Reduced epidermal collagen IV alpha 5 chain staining", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-epidermal-collagen-iv-alpha-5-chain-staining" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "respiratory-tract-infection", "name": "Respiratory tract infection", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-tract-infection" }, { "slug": "retinal-degeneration", "name": "Retina degeneration", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/retinal-degeneration" }, { "slug": "retinal-hemorrhage", "name": "Retinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-hemorrhage" }, { "slug": "retinal-flecks", "name": "Retinal flecks", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-flecks" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "microscopic-hematuria", "name": "Small amount of blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microscopic-hematuria" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "subcapsular-cataract", "name": "Subcapsular cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/subcapsular-cataract" }, { "slug": "thickened-glomerular-basement-membrane", "name": "Thickened glomerular basement membrane", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/thickened-glomerular-basement-membrane" }, { "slug": "thin-glomerular-basement-membrane", "name": "Thin glomerular basement membrane", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thin-glomerular-basement-membrane" } ], "related": [ { "slug": "col4a4", "symbol": "COL4A4", "name": "collagen type IV alpha 4 chain", "shared": 1, "url": "https://dantelabs.com/hu/genes/col4a4" }, { "slug": "col4a5", "symbol": "COL4A5", "name": "collagen type IV alpha 5 chain", "shared": 1, "url": "https://dantelabs.com/hu/genes/col4a5" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }