### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNIP1) # 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}}" "TNIP1" "TNFAIP3 interacting protein 1" "5" "q32-q33.1" "unknown" "NG_030590.1" "UD_134753574508" "" "http://www.LOVD.nl/TNIP1" "" "1" "16903" "10318" "607714" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TNIP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-23 11:11:40" "00000" "2020-06-18 09:04:42" ## 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}}" "00024099" "TNIP1" "transcript variant 1" "008" "NM_001252385.1" "" "NP_001239314.1" "" "" "" "-241" "2698" "1860" "150460645" "150409504" "00006" "2016-01-23 11:06:58" "" "" ## 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}}" "00860" "NTD" "neural tube defects, susceptibility to (NTD)" "AD" "182940" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-19 16:44:17" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00057254" "" "" "" "1" "" "01167" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00057255" "" "" "" "1" "" "01167" "" "" "M" "no" "Italy" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00057254" "00860" "00057255" "00860" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00860, 01157 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000044433" "00860" "00057254" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000044434" "00860" "00057255" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000057215" "00057254" "1" "01167" "01167" "2016-01-21 13:37:52" "" "" "SEQ-NG" "DNA" "blood" "" "0000057216" "00057255" "1" "01167" "01167" "2016-01-21 13:49:01" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000057215" "TNIP1" "0000057216" "TNIP1" ## 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 = 8 "{{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}}" "0000004230" "3" "30" "5" "150413406" "150413406" "subst" "0.814731" "00037" "TNIP1_000001" "g.150413406A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.151033845A>C" "" "likely benign" "" "0000012218" "3" "30" "5" "150413406" "150413406" "subst" "0.814731" "00037" "TNIP1_000001" "g.150413406A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.151033845A>C" "" "likely benign" "" "0000087507" "0" "70" "5" "150422146" "150422146" "subst" "0" "01167" "TNIP1_000002" "g.150422146A>C" "" "" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.151042585A>C" "" "likely pathogenic" "" "0000087508" "0" "70" "5" "150411943" "150411943" "subst" "4.06772E-6" "01167" "TNIP1_000003" "g.150411943G>A" "" "" "" "NM_006058.4:c.1781C>T" "" "Unknown" "?" "rs147425392" "0" "" "" "g.151032382G>A" "" "likely pathogenic" "" "0000609591" "0" "50" "5" "150407536" "150407536" "subst" "0" "01804" "GPX3_000001" "g.150407536G>A" "" "" "" "GPX3(NM_002084.3):c.526G>A (p.(Val176Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151027975G>A" "" "VUS" "" "0000609592" "0" "50" "5" "150407593" "150407593" "subst" "0" "01804" "GPX3_000002" "g.150407593A>G" "" "" "" "GPX3(NM_002084.3):c.583A>G (p.(Ile195Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151028032A>G" "" "VUS" "" "0000621513" "0" "50" "5" "150422157" "150422157" "subst" "4.47424E-5" "01943" "TNIP1_000004" "g.150422157G>C" "" "" "" "TNIP1(NM_001252385.1):c.1078C>G (p.Q360E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151042596G>C" "" "VUS" "" "0000621514" "0" "50" "5" "150431727" "150431727" "subst" "4.06981E-5" "01943" "TNIP1_000005" "g.150431727G>A" "" "" "" "TNIP1(NM_001252385.1):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151052166G>A" "" "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 TNIP1 ## Count = 8 "{{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}}" "0000004230" "00024099" "30" "1588" "-46" "1588" "-46" "c.1588-46T>G" "r.(?)" "p.(=)" "15i" "0000012218" "00024099" "30" "1588" "-46" "1588" "-46" "c.1588-46T>G" "r.(?)" "p.(=)" "15i" "0000087507" "00024099" "70" "1089" "0" "1089" "0" "c.1089T>G" "r.(?)" "p.(Phe363Leu)" "11" "0000087508" "00024099" "70" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(Arg600Trp)" "16" "0000609591" "00024099" "50" "4666" "0" "4666" "0" "c.*2806C>T" "r.(=)" "p.(=)" "" "0000609592" "00024099" "50" "4609" "0" "4609" "0" "c.*2749T>C" "r.(=)" "p.(=)" "" "0000621513" "00024099" "50" "1078" "0" "1078" "0" "c.1078C>G" "r.(?)" "p.(Gln360Glu)" "" "0000621514" "00024099" "50" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004230" "0000000210" "0000012218" "0000057215" "0000087507" "0000057216" "0000087508"