### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNF) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "TNF" "tumor necrosis factor" "6" "p21.3" "unknown" "NG_007462.1" "UD_134408598662" "" "https://www.LOVD.nl/TNF" "" "1" "11892" "7124" "191160" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TNF_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-27 16:33:59" "00000" "2024-08-28 13:16:32" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00021538" "TNF" "tumor necrosis factor" "001" "NM_000594.3" "" "NP_000585.2" "" "" "" "-175" "1501" "702" "31543344" "31546113" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00309" "MLRS" "malaria, susceptibility to" "" "611162" "" "" "" "00006" "2014-01-24 11:34:13" "00006" "2021-12-14 08:45:33" "00511" "-" "asthma, susceptibility to" "AD" "600807" "" "" "" "00006" "2014-08-20 13:51:24" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TNF" "00309" "TNF" "00511" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00388001" "" "" "" "1" "" "04149" "{PMID:Olaniyan 2016:27178813}" "comparison 782 children (283 with uncomplicated malaria, 255 with severe malaria, 244 children asymptomatic infection (controls))" "F;M" "" "Nigeria" "" "0" "" "" "Nigeria-SW-Ibadan" "case-control" "00396132" "" "" "" "1" "" "04149" "{PMID:Olaniyan 2016:27178813}" "comparison 782 children (283 with uncomplicated malaria, 255 with severe malaria, 244 children asymptomatic infection (controls))" "F;M" "" "Nigeria" "" "0" "" "" "Nigeria-SW-Ibadan" "case-control" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00388001" "00309" "00396132" "00309" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00309, 00511 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000389236" "00388001" "1" "04149" "04149" "2021-11-01 17:15:24" "00006" "2021-12-14 08:54:00" "MS" "DNA" "blood" "" "0000397371" "00396132" "1" "04149" "04149" "2021-12-14 08:55:08" "" "" "MS" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000389236" "TNF" "0000397371" "TNF" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 4 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000818150" "1" "70" "6" "31543101" "31543101" "subst" "0" "04149" "TNF_000001" "g.31543101G>A" "" "{PMID:Olaniyan 2016:27178813}" "" "TNF-238 G>A (c.-418G>A)" "variant associated with severe clinical outcome of falciparum malaria infection, significantly decreased risk of developing cerebral malaria from asymptomatic/uncomplicated malaria" "Germline" "" "rs361525" "0" "" "" "g.31575324G>A" "" "association" "" "0000829343" "1" "70" "6" "31543031" "31543031" "subst" "0" "04149" "TNF_000002" "g.31543031G>A" "" "{PMID:Olaniyan 2016:27178813}" "" "TNF-308 G>A (c.-488G>A)" "variant not associated with severe clinical outcome of falciparum malaria infection" "Germline" "" "rs1800629" "0" "" "" "g.31575254G>A" "" "benign" "" "0000995647" "0" "30" "6" "31545093" "31545093" "subst" "0.000107625" "01804" "LTA_000002" "g.31545093G>A" "" "" "" "TNF(NM_000594.3):c.481G>A (p.(Val161Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995648" "0" "50" "6" "31545193" "31545193" "subst" "0.000340159" "01804" "LTA_000003" "g.31545193T>A" "" "" "" "TNF(NM_000594.3):c.581T>A (p.(Ile194Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TNF ## Count = 4 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000818150" "00021538" "70" "0" "0" "0" "0" "-" "r.(?)" "p.(?)" "" "0000829343" "00021538" "70" "0" "0" "0" "0" "-" "r.(?)" "p.(?)" "_1" "0000995647" "00021538" "30" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Val161Ile)" "" "0000995648" "00021538" "50" "581" "0" "581" "0" "c.581T>A" "r.(?)" "p.(Ile194Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000389236" "0000818150" "0000397371" "0000829343"