{ "url": "https://dantelabs.com/pl/genes/foxn1", "gene": { "slug": "foxn1", "symbol": "FOXN1", "name": "forkhead box N1", "hgnc": "HGNC:12765", "summary": null, "location": "17q11.2", "locusType": "gene with protein product", "aliases": [ "FKHL20" ], "previousSymbols": [ "WHN", "RONU" ], "ensemblId": "ENSG00000109101", "entrezId": 8456, "omim": [ "600838" ], "uniprot": [ "O15353" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 28506348, "end": 28538900, "strand": "+", "ensemblTranscript": "ENST00000579795.6", "refseqTranscript": "NM_001369369.1", "ensemblProtein": "ENSP00000464645.1", "refseqProtein": "NP_001356298.1", "exons": [ { "start": 28506348, "end": 28506443 }, { "start": 28523956, "end": 28524092 }, { "start": 28524503, "end": 28524967 }, { "start": 28527251, "end": 28527361 }, { "start": 28529094, "end": 28529224 }, { "start": 28530749, "end": 28530845 }, { "start": 28534331, "end": 28534538 }, { "start": 28534707, "end": 28535198 }, { "start": 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28357623, "strand": "-", "slug": "poldip2" }, { "symbol": "VMA12", "ensemblId": "ENSG00000244045", "biotype": "protein_coding", "start": 28357636, "end": 28363683, "strand": "+", "slug": "vma12" }, { "symbol": "SEBOX", "ensemblId": "ENSG00000274529", "biotype": "protein_coding", "start": 28363506, "end": 28365199, "strand": "-", "slug": "sebox" }, { "symbol": "", "ensemblId": "ENSG00000273171", "biotype": "protein_coding", "start": 28364288, "end": 28368012, "strand": "-" }, { "symbol": "SARM1", "ensemblId": "ENSG00000004139", "biotype": "protein_coding", "start": 28364356, "end": 28404049, "strand": "+", "slug": "sarm1" }, { "symbol": "VTN", "ensemblId": "ENSG00000109072", "biotype": "protein_coding", "start": 28366414, "end": 28373091, "strand": "-", "slug": "vtn" }, { "symbol": "SLC46A1", "ensemblId": "ENSG00000076351", "biotype": "protein_coding", "start": 28394642, "end": 28407197, "strand": "-", "slug": "slc46a1" }, { "symbol": "RSKR", "ensemblId": "ENSG00000167524", "biotype": "protein_coding", "start": 28455752, "end": 28614210, "strand": "-", "slug": "rskr" }, { "symbol": "SLC13A2", "ensemblId": "ENSG00000007216", "biotype": "protein_coding", "start": 28473275, "end": 28497782, "strand": "+", "slug": "slc13a2" }, { "symbol": "UNC119", "ensemblId": "ENSG00000109103", "biotype": "protein_coding", "start": 28546705, "end": 28552655, "strand": "-", "slug": "unc119" }, { "symbol": "PIGS", "ensemblId": "ENSG00000087111", "biotype": "protein_coding", "start": 28553383, "end": 28571794, "strand": "-", "slug": "pigs" }, { "symbol": "ALDOC", "ensemblId": "ENSG00000109107", "biotype": "protein_coding", "start": 28573115, "end": 28576948, "strand": "-", "slug": "aldoc" }, { "symbol": "SPAG5", "ensemblId": "ENSG00000076382", "biotype": "protein_coding", "start": 28577565, "end": 28599052, "strand": "-", "slug": "spag5" }, { "symbol": "", "ensemblId": "ENSG00000258472", "biotype": "protein_coding", "start": 28580012, "end": 28614185, "strand": "-" }, { "symbol": "BLTP2", "ensemblId": "ENSG00000007202", "biotype": "protein_coding", "start": 28614440, "end": 28645454, "strand": "-", "slug": "bltp2" }, { "symbol": "SDF2", "ensemblId": "ENSG00000132581", "biotype": "protein_coding", "start": 28648346, "end": 28662189, "strand": "-", "slug": "sdf2" }, { "symbol": "SUPT6H", "ensemblId": "ENSG00000109111", "biotype": "protein_coding", "start": 28661920, "end": 28702682, "strand": "+", "slug": "supt6h" }, { "symbol": "PROCA1", "ensemblId": "ENSG00000167525", "biotype": "protein_coding", "start": 28703196, "end": 28712313, "strand": "-", "slug": "proca1" }, { "symbol": "RAB34", "ensemblId": "ENSG00000109113", "biotype": "protein_coding", "start": 28713545, "end": 28719594, "strand": "-", "slug": "rab34" }, { "symbol": "RPL23A", "ensemblId": "ENSG00000198242", "biotype": "protein_coding", "start": 28719940, "end": 28724365, "strand": "+", "slug": "rpl23a" }, { "symbol": "TLCD1", "ensemblId": "ENSG00000160606", "biotype": "protein_coding", "start": 28723435, "end": 28727935, "strand": "-", "slug": "tlcd1" }, { "symbol": "NEK8", "ensemblId": "ENSG00000160602", "biotype": "protein_coding", "start": 28725897, "end": 28743455, "strand": "+", "slug": "nek8" }, { "symbol": "TRAF4", "ensemblId": "ENSG00000076604", "biotype": "protein_coding", "start": 28743978, "end": 28772894, "strand": "+", "slug": "traf4" }, { "symbol": "FAM222B", "ensemblId": "ENSG00000173065", "biotype": "protein_coding", "start": 28755966, "end": 28855232, "strand": "-", "slug": "fam222b" }, { "symbol": "ERAL1", "ensemblId": "ENSG00000132591", "biotype": "protein_coding", "start": 28854983, "end": 28861067, "strand": "+", "slug": "eral1" }, { "symbol": "FLOT2", "ensemblId": "ENSG00000132589", "biotype": "protein_coding", "start": 28879335, "end": 28897741, "strand": "-", "slug": "flot2" }, { "symbol": "DHRS13", "ensemblId": "ENSG00000167536", "biotype": "protein_coding", "start": 28897781, "end": 28903087, "strand": "-", "slug": "dhrs13" }, { "symbol": "PHF12", "ensemblId": "ENSG00000109118", "biotype": "protein_coding", "start": 28905247, "end": 28951771, "strand": "-", "slug": "phf12" }, { "symbol": "PIPOX", "ensemblId": "ENSG00000179761", "biotype": "protein_coding", "start": 28950513, "end": 29057583, "strand": "+", "slug": "pipox" }, { "symbol": "SEZ6", "ensemblId": "ENSG00000063015", "biotype": "protein_coding", "start": 28954901, "end": 29006440, "strand": "-", "slug": "sez6" } ], "truncated": false }, "reports": [ { "slug": "severe-combined-immunodeficiency", "name": "Ciężki złożony niedobór odporności", "diseases": [ { "mondoId": "MONDO:0015974", "name": "Ciężki złożony niedobór odporności", "genes": 31, "inheritance": "autosomal-recessive", "description": "Ciężki złożony niedobór odporności (SCID) obejmuje grupę rzadkich, jednogenowych pierwotnych niedoborów odporności, które charakteryzują się brakiem funkcjonalnych limfocytów T obwodowych. Prowadzi to do ciężkich infekcji dróg oddechowych pojawiających się we wczesnym dzieciństwie oraz do zahamowania prawidłowego wzrostu i rozwoju. Ze względu na fenotyp immunologiczny wyróżnia się SCID z brakiem komórek T przy zachowanych komórkach B (SCID T-B+) oraz SCID z brakiem zarówno komórek T, jak i B (SCID T-B-). Obie te grupy obejmują kilka postaci, z obecnością lub bez komórek NK (natural killer).", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/severe-combined-immunodeficiency" }, { "slug": "immunodeficiency-disease", "name": "Inne wrodzone błędy odporności", "diseases": [ { "mondoId": "MONDO:0021094", "name": "Niedobór odporności", "genes": 170, "inheritance": null, "description": "Choroba, w której dochodzi do niedoboru lub wady mechanizmów odporności, komórkowej lub humoralnej.", "management": "HSCT w przypadku SCID i ciężkich pierwotnych niedoborów odporności; substytucja immunoglobulinami (IVIG/SCIG) w przypadku niedoborów przeciwciał; leniolisib (Joenja, FDA 2023) w APDS; terapia genowa w ADA-SCID; abatacept w niedoborze CTLA4/LRBA; profilaktyczne antybiotyki; G-CSF w CGD", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pl/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormally-low-t-cell-receptor-excision-circle-level", "name": "Abnormally low T cell receptor excision circle level", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormally-low-t-cell-receptor-excision-circle-level" }, { "slug": "aplasia-of-the-thymus", "name": "Absent thymus", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-endocrine-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aplasia-of-the-thymus" }, { "slug": "atypical-or-prolonged-hepatitis", "name": "Atypical or prolonged liver inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atypical-or-prolonged-hepatitis" }, { "slug": "autoimmunity", "name": "Autoimmunity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autoimmunity" }, { "slug": "atopic-dermatitis", "name": "Baby eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atopic-dermatitis" }, { "slug": "cellular-immunodeficiency", "name": "Cellular immunodeficiency", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cellular-immunodeficiency" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "chronic-otitis-media", "name": "Chronic infections of the middle ear", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chronic-otitis-media" }, { "slug": "recurrent-oral-thrush", "name": "Chronic oral thrush", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-oral-thrush" }, { "slug": "combined-immunodeficiency", "name": "Combined immunodeficiency", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/combined-immunodeficiency" }, { "slug": "congenital-alopecia-totalis", "name": "Congenital alopecia totalis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/congenital-alopecia-totalis" }, { "slug": "coombs-positive-hemolytic-anemia", "name": "Coombs-positive hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coombs-positive-hemolytic-anemia" }, { "slug": "decreased-total-lymphocyte-count", "name": "Decreased blood lymphocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count" }, { "slug": "immunodeficiency", "name": "Decreased immune function", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/immunodeficiency" }, { "slug": "decreased-mitogen-induced-t-cell-proliferation", "name": "Decreased mitogen-induced T-cell proliferation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-mitogen-induced-t-cell-proliferation" }, { "slug": "decreased-naive-t-cell-proportion", "name": "Decreased naive T cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-naive-t-cell-proportion" }, { "slug": "decreased-total-cd4-t-cell-proportion", "name": "Decreased total CD4+ T cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "eczematoid-dermatitis", "name": "Eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/eczematoid-dermatitis" }, { "slug": "emphysema", "name": "Emphysema", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/emphysema" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "ridged-nail", "name": "Grooved nails", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ridged-nail" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "hypocalcemic-tetany", "name": "Hypocalcemic tetany", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypocalcemic-tetany" }, { "slug": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sepsis" }, { "slug": "invasive-fungal-infection", "name": "Invasive fungal infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/invasive-fungal-infection" }, { "slug": "decreased-total-t-cell-count", "name": "Low T cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-t-cell-count" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "meningitis", "name": "Meningitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/meningitis" }, { "slug": "nail-pits", "name": "Nail pits", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nail-pits" }, { "slug": "oligoclonal-t-cell-expansion", "name": "Oligoclonal T cell expansion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligoclonal-t-cell-expansion" }, { "slug": "opportunistic-infection", "name": "Opportunistic infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/opportunistic-infection" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "pneumonia", "name": "Pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pneumonia" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "pyoderma", "name": "Pus-filled lesion", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/pyoderma" }, { "slug": "recurrent-bacterial-infections", "name": "Recurrent bacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-bacterial-infections" }, { "slug": "recurrent-candida-infection", "name": "Recurrent Candida infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-candida-infection" }, { "slug": "recurrent-upper-respiratory-tract-infections", "name": "Recurrent colds", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections" }, { "slug": "recurrent-infection-of-the-gastrointestinal-tract", "name": "Recurrent infection of the gastrointestinal tract", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-infection-of-the-gastrointestinal-tract" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "recurrent-bronchopulmonary-infections", "name": "Recurrent infections in bronchi and lungs", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/recurrent-bronchopulmonary-infections" }, { "slug": "recurrent-pneumonia", "name": "Recurrent pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/recurrent-pneumonia" }, { "slug": "recurrent-staphylococcus-aureus-infection", "name": "Recurrent Staphylococcus aureus infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-staphylococcus-aureus-infection" }, { "slug": "recurrent-streptococcus-pneumoniae-infections", "name": "Recurrent streptococcus pneumoniae infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-streptococcus-pneumoniae-infections" }, { "slug": "recurrent-viral-infections", "name": "Recurrent viral infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-viral-infections" }, { "slug": "reduced-delayed-hypersensitivity", "name": "Reduced delayed hypersensitivity", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/reduced-delayed-hypersensitivity" }, { "slug": "severe-infection", "name": "Severe infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/severe-infection" }, { "slug": "severe-t-cell-immunodeficiency", "name": "Severe T-cell immunodeficiency", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-t-cell-immunodeficiency" }, { "slug": "severe-viral-infection", "name": "Severe viral infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/severe-viral-infection" }, { "slug": "sinusitis", "name": "Sinus disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sinusitis" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "thyroiditis", "name": "Thyroid gland inflammation", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thyroiditis" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypothyroidism" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 2, "url": "https://dantelabs.com/pl/genes/ada" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 2, "url": "https://dantelabs.com/pl/genes/ak2" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/pl/genes/bcl11b" }, { "slug": "card11", "symbol": "CARD11", "name": "caspase recruitment domain family member 11", "shared": 2, "url": "https://dantelabs.com/pl/genes/card11" }, { "slug": "carmil2", "symbol": "CARMIL2", "name": "capping protein regulator and myosin 1 linker 2", "shared": 2, "url": "https://dantelabs.com/pl/genes/carmil2" }, { "slug": "cd247", "symbol": "CD247", "name": "CD247 molecule", "shared": 2, "url": "https://dantelabs.com/pl/genes/cd247" }, { "slug": "cd3d", "symbol": "CD3D", "name": "CD3 delta subunit of T-cell receptor complex", "shared": 2, "url": "https://dantelabs.com/pl/genes/cd3d" }, { "slug": "cd3e", "symbol": "CD3E", "name": "CD3 epsilon subunit of T-cell receptor 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}, { "slug": "i433ffs117", "name": "I433Ffs*117", "commonName": null, "symbol": "FOXN1", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1296del", "position": 28534863, "grch37Position": 26861881, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/foxn1/variants/i433ffs117" }, { "slug": "l325p", "name": "L325P", "commonName": null, "symbol": "FOXN1", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.974T>C", "position": 28534377, "grch37Position": 26861395, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/foxn1/variants/l325p" }, { "slug": "l426tfs123", "name": "L426Tfs*123", "commonName": null, "symbol": "FOXN1", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1275_1278del", "position": 28534840, "grch37Position": 26861858, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/foxn1/variants/l426tfs123" }, { "slug": "l439cfs111", "name": "L439Cfs*111", "commonName": 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28530798, "grch37Position": 26857816, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/foxn1/variants/v294l" }, { "slug": "y241x", "name": "Y241X", "commonName": null, "symbol": "FOXN1", "classification": "pathogenic", "stars": 3, "hgvsC": "c.723C>G", "position": 28529117, "grch37Position": 26856135, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/foxn1/variants/y241x" }, { "slug": "y455cfs94", "name": "Y455Cfs*94", "commonName": null, "symbol": "FOXN1", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1364_1367del", "position": 28534933, "grch37Position": 26861951, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/foxn1/variants/y455cfs94" } ] } }