{ "url": "https://dantelabs.com/sv/genes/stt3a", "gene": { "slug": "stt3a", "symbol": "STT3A", "name": "STT3 oligosaccharyltransferase complex catalytic subunit A", "hgnc": "HGNC:6172", "summary": null, "location": "11q24.2", "locusType": "gene with protein product", "aliases": [ "TMC", "MGC9042", "STT3-A" ], "previousSymbols": [ "ITM1" ], "ensemblId": "ENSG00000134910", "entrezId": 3703, "omim": [ "601134" ], "uniprot": [ "P46977" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 125592852, "end": 125623091, "strand": "+", "ensemblTranscript": "ENST00000392708.9", "refseqTranscript": "NM_152713.5", "ensemblProtein": "ENSP00000376472.3", "refseqProtein": "NP_689926.1", "exons": [ { "start": 125592852, "end": 125592918 }, { "start": 125595881, "end": 125596003 }, { "start": 125597059, "end": 125597119 }, { "start": 125602303, "end": 125602424 }, { "start": 125602803, "end": 125602948 }, { "start": 125604157, "end": 125604247 }, { "start": 125605629, "end": 125605735 }, { "start": 125606301, "end": 125606465 }, { "start": 125608109, "end": 125608289 }, { "start": 125609434, "end": 125609589 }, { "start": 125611428, "end": 125611519 }, { "start": 125612592, "end": 125612747 }, { "start": 125612989, "end": 125613177 }, { "start": 125614087, "end": 125614203 }, { "start": 125614324, "end": 125614426 }, { "start": 125618373, "end": 125618561 }, { "start": 125620011, "end": 125620126 }, { "start": 125620772, "end": 125623091 } ], "cds": { "start": 125595916, "end": 125620810 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 125461607, "end": 125495110, "strand": "+" }, "neighbourhood": { "release": "116", "start": 125107972, "end": 126107971, "genes": [ { "symbol": "TMEM218", "ensemblId": "ENSG00000150433", "biotype": "protein_coding", "start": 125094379, "end": 125111870, "strand": "-", "slug": "tmem218" }, { "symbol": "PKNOX2", "ensemblId": "ENSG00000165495", "biotype": "protein_coding", "start": 125164537, "end": 125434287, "strand": "+", "slug": "pknox2" }, { "symbol": "FEZ1", "ensemblId": "ENSG00000149557", "biotype": "protein_coding", "start": 125442881, "end": 125592578, "strand": "-", "slug": "fez1" }, { "symbol": "EI24", "ensemblId": "ENSG00000149547", "biotype": "protein_coding", "start": 125536608, "end": 125585035, "strand": "+", "slug": "ei24" }, { "symbol": "CHEK1", "ensemblId": "ENSG00000149554", "biotype": "protein_coding", "start": 125625163, "end": 125676255, "strand": "+", "slug": "chek1" }, { "symbol": "ACRV1", "ensemblId": "ENSG00000134940", "biotype": "protein_coding", "start": 125671522, "end": 125680874, "strand": "-", "slug": "acrv1" }, { "symbol": "PATE1", "ensemblId": "ENSG00000171053", "biotype": "protein_coding", "start": 125746279, "end": 125749867, "strand": "+", "slug": "pate1" }, { "symbol": "PATE2", "ensemblId": "ENSG00000196844", "biotype": "protein_coding", "start": 125776113, "end": 125778828, "strand": "-", "slug": "pate2" }, { "symbol": "PATE3", "ensemblId": "ENSG00000236027", "biotype": "protein_coding", "start": 125788127, "end": 125791600, "strand": "+", "slug": "pate3" }, { "symbol": "PATE4", "ensemblId": "ENSG00000237353", "biotype": "protein_coding", "start": 125833316, "end": 125840072, "strand": "+", "slug": "pate4" }, { "symbol": "HYLS1", "ensemblId": "ENSG00000198331", "biotype": "protein_coding", "start": 125883614, "end": 125900846, "strand": "+", "slug": "hyls1" }, { "symbol": "PUS3", "ensemblId": "ENSG00000110060", "biotype": "protein_coding", "start": 125892347, "end": 125903227, "strand": "-", "slug": "pus3" }, { "symbol": "DDX25", "ensemblId": "ENSG00000109832", "biotype": "protein_coding", "start": 125903348, "end": 125943702, "strand": "+", "slug": "ddx25" }, { "symbol": "VSIG10L2", "ensemblId": "ENSG00000283703", "biotype": "protein_coding", "start": 125946044, "end": 125958647, "strand": "+", "slug": "vsig10l2" }, { "symbol": "CDON", "ensemblId": "ENSG00000064309", "biotype": "protein_coding", "start": 125955796, "end": 126063335, "strand": "-", "slug": "cdon" } ], "truncated": false }, "reports": [ { "slug": "disorder-of-glycosylation", "name": "Medfødda glykosyleringsrubbningar", "diseases": [ { "mondoId": "MONDO:0015286", "name": "Medfödda glykosyleringsrubbningar (CDG)", "genes": 98, "inheritance": null, "description": "En stor grupp ärftliga tillstånd där sockerkedjor (glykaner) inte byggs eller fästs korrekt på proteiner och lipider, ofta med påverkan på hjärnan, levern, blodkoagulationen, tillväxten och många andra organsystem. De flesta är autosomalt recessiva, men vissa är X-bundna eller autosomalt dominanta.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/disorder-of-glycosylation" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-glycosylation", "name": "Abnormal glycosylation", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-glycosylation" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "cavum-septum-pellucidum", "name": "Cavum septum pellucidum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cavum-septum-pellucidum" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "osteoarthritis", "name": "Degenerative joint disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteoarthritis" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "arachnoid-cyst", "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arachnoid-cyst" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "high-anterior-hairline", "name": "High frontal hairline", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-anterior-hairline" }, { "slug": "impaired-smooth-pursuit", "name": "Impaired smooth pursuit", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-smooth-pursuit" }, { "slug": "skeletal-muscle-hypertrophy", "name": "Increased skeletal muscle cells", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skeletal-muscle-hypertrophy" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "inverted-nipples", "name": "Inverted nipples", "systems": [ "abnormality-of-the-breast" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inverted-nipples" }, { "slug": "long-ear", "name": "Long ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-ear" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-spasm" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "short-palpebral-fissure", "name": "Short opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-palpebral-fissure" }, { "slug": "micropenis", "name": "Short penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micropenis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "small-scrotum", "name": "Smaller than typical growth of scrotum", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/small-scrotum" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "subdural-hemorrhage", "name": "Subdural hemorrhage", "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/subdural-hemorrhage" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" } ], "related": [ { "slug": "a4galt", "symbol": "A4GALT", "name": "alpha 1,4-galactosyltransferase (P1PK blood group)", "shared": 1, "url": "https://dantelabs.com/sv/genes/a4galt" }, { "slug": "alg1", "symbol": "ALG1", "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg1" }, { "slug": "alg11", "symbol": "ALG11", "name": "ALG11 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg11" }, { "slug": "alg12", "symbol": "ALG12", "name": "ALG12 alpha-1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg12" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg13" }, { "slug": "alg14", "symbol": "ALG14", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg14" }, { "slug": "alg2", "symbol": "ALG2", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg2" }, { "slug": "alg3", "symbol": "ALG3", "name": "ALG3 alpha-1,3- mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg3" }, { "slug": "alg6", "symbol": "ALG6", "name": "ALG6 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg6" }, { "slug": "alg8", "symbol": "ALG8", "name": "ALG8 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg8" }, { "slug": "alg9", "symbol": "ALG9", "name": "ALG9 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg9" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/atp6ap1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }