{ "url": "https://dantelabs.com/sv/genes/cldn19", "gene": { "slug": "cldn19", "symbol": "CLDN19", "name": "claudin 19", "hgnc": "HGNC:2040", "summary": null, "location": "1p34.2", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000164007", "entrezId": 149461, "omim": [ "610036" ], "uniprot": [ "Q8N6F1" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 42733093, "end": 42740236, "strand": "-", "ensemblTranscript": "ENST00000296387.6", "refseqTranscript": "NM_148960.3", "ensemblProtein": "ENSP00000296387.1", "refseqProtein": "NP_683763.2", "exons": [ { "start": 42733093, "end": 42735134 }, { "start": 42735878, "end": 42736030 }, { "start": 42738229, "end": 42738313 }, { "start": 42738421, "end": 42738585 }, { "start": 42739841, "end": 42740236 } ], "cds": { "start": 42735086, "end": 42740063 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 43198764, "end": 43205925, "strand": "-" }, "neighbourhood": { "release": "116", "start": 42236665, "end": 43236664, "genes": [ { "symbol": "FOXJ3", "ensemblId": "ENSG00000198815", "biotype": "protein_coding", "start": 42176535, "end": 42335913, "strand": "-", "slug": "foxj3" }, { "symbol": "RIMKLA", "ensemblId": "ENSG00000177181", "biotype": "protein_coding", "start": 42380772, "end": 42424232, "strand": "+", "slug": "rimkla" }, { "symbol": "ZMYND12", "ensemblId": "ENSG00000066185", "biotype": "protein_coding", "start": 42430315, "end": 42456253, "strand": "-", "slug": "zmynd12" }, { "symbol": "PPCS", "ensemblId": "ENSG00000127125", "biotype": "protein_coding", "start": 42456117, "end": 42473417, "strand": "+", "slug": "ppcs" }, { "symbol": "CCDC30", "ensemblId": "ENSG00000186409", "biotype": "protein_coding", "start": 42463221, "end": 42657190, "strand": "+", "slug": "ccdc30" }, { "symbol": "PPIH", "ensemblId": "ENSG00000171960", "biotype": "protein_coding", "start": 42658185, "end": 42676758, "strand": "+", "slug": "ppih" }, { "symbol": "YBX1", "ensemblId": "ENSG00000065978", "biotype": "protein_coding", "start": 42682144, "end": 42703805, "strand": "+", "slug": "ybx1" }, { "symbol": "P3H1", "ensemblId": "ENSG00000117385", "biotype": "protein_coding", "start": 42746335, "end": 42767084, "strand": "-", "slug": "p3h1" }, { "symbol": "C1orf50", "ensemblId": "ENSG00000164008", "biotype": "protein_coding", "start": 42767245, "end": 42781980, "strand": "+", "slug": "c1orf50" }, { "symbol": "", "ensemblId": "ENSG00000283580", "biotype": "protein_coding", "start": 42767292, "end": 42794493, "strand": "+" }, { "symbol": "TMEM269", "ensemblId": "ENSG00000274386", "biotype": "protein_coding", "start": 42784991, "end": 42816619, "strand": "+", "slug": "tmem269" }, { "symbol": "SVBP", "ensemblId": "ENSG00000177868", "biotype": "protein_coding", "start": 42788324, "end": 42824810, "strand": "-", "slug": "svbp" }, { "symbol": "ERMAP", "ensemblId": "ENSG00000164010", "biotype": "protein_coding", "start": 42817078, "end": 42845920, "strand": "+", "slug": "ermap" }, { "symbol": "ZNF691", "ensemblId": "ENSG00000164011", "biotype": "protein_coding", "start": 42846573, "end": 42854023, "strand": "+", "slug": "znf691" }, { "symbol": "SLC2A1", "ensemblId": "ENSG00000117394", "biotype": "protein_coding", "start": 42925353, "end": 42958904, "strand": "-", "slug": "slc2a1" }, { "symbol": "CFAP144", "ensemblId": "ENSG00000186973", "biotype": "protein_coding", "start": 43145153, "end": 43156396, "strand": "+", "slug": "cfap144" }, { "symbol": "EBNA1BP2", "ensemblId": "ENSG00000117395", "biotype": "protein_coding", "start": 43162085, "end": 43270936, "strand": "-", "slug": "ebna1bp2" }, { "symbol": "CFAP57", "ensemblId": "ENSG00000243710", "biotype": "protein_coding", "start": 43172326, "end": 43254358, "strand": "+", "slug": "cfap57" } ], "truncated": false }, "reports": [ { "slug": "familial-hypomagnesemia", "name": "Familiär hypomagnesemi", "diseases": [ { "mondoId": "MONDO:0018100", "name": "Familiär primär hypomagnesemi", "genes": 9, "inheritance": null, "description": "En grupp ärftliga sjukdomar med förlust av magnesium via njurarna, orsakade av varianter i gener som CLDN16, CLDN19, TRPM6, CNNM2 och FXYD2; formerna med CLDN16 och CLDN19 kan utvecklas till kronisk njursjukdom.", "management": "Tillskott av magnesium kan kontrollera symtomen, och vissa former kräver uppföljning av njurfunktionen och ögonen.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/familial-hypomagnesemia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-circulating-calcium-phosphate-regulating-hormone-concentration", "name": "Abnormal circulating calcium-phosphate regulating hormone concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-calcium-phosphate-regulating-hormone-concentration" }, { "slug": "abnormal-retinal-pigmentation", "name": "Abnormal retinal pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation" }, { "slug": "amelogenesis-imperfecta", "name": "Amelogenesis imperfecta", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/amelogenesis-imperfecta" }, { "slug": "astigmatism", "name": "Astigmatism", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/astigmatism" }, { "slug": "chorioretinal-coloboma", "name": "Birth defect that causes a hole in the innermost layer at the back of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chorioretinal-coloboma" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "hypercalciuria", "name": "Elevated urine calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypercalciuria" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "hypermagnesiuria", "name": "Hypermagnesiuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypermagnesiuria" }, { "slug": "nephrocalcinosis", "name": "Increased calcium level in kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nephrocalcinosis" }, { "slug": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "renal-calcium-wasting", "name": "Kidney Ca wasting", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-calcium-wasting" }, { "slug": "nephropathy", "name": "Kidney damage", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nephropathy" }, { "slug": "kidney-stone", "name": "Kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/kidney-stone" }, { "slug": "hypomagnesemia", "name": "Low blood magnesium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypomagnesemia" }, { "slug": "macular-pseudocoloboma", "name": "Macular pseudocoloboma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macular-pseudocoloboma" }, { "slug": "renal-magnesium-wasting", "name": "Renal magnesium wasting", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-magnesium-wasting" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "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": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/umbilical-hernia" } ], "related": [ { "slug": "atp1a1", "symbol": "ATP1A1", "name": "ATPase Na+/K+ transporting subunit alpha 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/atp1a1" }, { "slug": "cldn16", "symbol": "CLDN16", "name": "claudin 16", "shared": 1, "url": "https://dantelabs.com/sv/genes/cldn16" }, { "slug": "cnnm2", "symbol": "CNNM2", "name": "cyclin and CBS domain divalent metal cation transport mediator 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/cnnm2" }, { "slug": "fxyd2", "symbol": "FXYD2", "name": "FXYD domain containing ion transport regulator 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/fxyd2" }, { "slug": "rragd", "symbol": "RRAGD", "name": "Ras related GTP binding D", "shared": 1, "url": "https://dantelabs.com/sv/genes/rragd" }, { "slug": "trpm6", "symbol": "TRPM6", "name": "transient receptor potential cation channel subfamily M member 6", "shared": 1, "url": "https://dantelabs.com/sv/genes/trpm6" }, { "slug": "trpm7", "symbol": "TRPM7", "name": "transient receptor potential cation channel subfamily M member 7", "shared": 1, "url": "https://dantelabs.com/sv/genes/trpm7" }, { "slug": "trpv6", "symbol": "TRPV6", "name": "transient receptor potential cation channel subfamily V member 6", "shared": 1, "url": "https://dantelabs.com/sv/genes/trpv6" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }