### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRIP4) # 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}}" "TRIP4" "thyroid hormone receptor interactor 4" "15" "q22.1" "unknown" "NG_046848.1" "UD_132378439349" "" "https://www.LOVD.nl/TRIP4" "" "1" "12310" "9325" "604501" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TRIP4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-09 15:56:10" "00000" "2025-11-01 13:22:20" ## 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}}" "00021869" "TRIP4" "thyroid hormone receptor interactor 4" "001" "NM_016213.4" "" "NP_057297.2" "" "" "" "-60" "1985" "1746" "64680003" "64747502" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "05454" "SMABF1" "atrophy, muscular, spinal, with congenital bone fractures, type 1 (SMABF-1)" "AR" "616866" "" "autosomal recessive" "" "00006" "2018-07-09 15:53:18" "00006" "2021-12-10 21:51:32" "05455" "SMABF" "atrophy, muscular, spinal, with congenital bone fractures (SMABF)" "" "" "" "" "" "00006" "2018-07-09 15:54:20" "" "" "06263" "MDCDC" "?Muscular dystrophy, congenital, Davignon-Chauveau type" "AR" "617066" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TRIP4" "05454" "TRIP4" "05455" "TRIP4" "06263" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00261360" "" "" "" "1" "" "03395" "" "submitted for publication" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "1179497" "00289324" "" "" "" "2" "" "00006" "{PMID:Knierim 2016:26924529}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F;M" "" "Yugoslavia" "" "0" "" "" "Kosovo" "FamA" "00289325" "" "" "" "2" "" "00006" "{PMID:Knierim 2016:26924529}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "" "Yugoslavia" "" "0" "" "" "Kosovo" "FamB" "00289326" "" "" "" "1" "" "00006" "{PMID:Knierim 2016:26924529}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Albania" "" "0" "" "" "" "FamC" "00373743" "" "" "" "1" "" "03395" "" "" "F" "no" "Greece" "" "" "" "" "" "" "00398962" "" "" "" "1" "" "00006" "{PMID:Natera-de Benito 2021:33333461}" "patient" "M" "" "Spain" "" "0" "" "" "" "Fam59Pat65" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00261360" "05454" "00289324" "00198" "00289325" "00198" "00289326" "00198" "00373743" "05454" "00398962" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 05454, 05455, 06263 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000222954" "00198" "00289324" "00006" "Familial, autosomal recessive" "" "see paper; ..., prenatal-onset spinal muscular atrophy, multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, congenital bone fractures" "" "" "" "" "" "" "" "" "SMABF2" "" "" "0000222955" "00198" "00289325" "00006" "Familial, autosomal recessive" "" "see paper; ..., prenatal-onset spinal muscular atrophy, multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, congenital bone fractures" "" "" "" "" "" "" "" "" "SMABF2" "" "" "0000222956" "00198" "00289326" "00006" "Familial, autosomal recessive" "" "see paper; ..., prenatal-onset spinal muscular atrophy, multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, congenital bone fractures" "" "" "" "" "" "" "" "" "SMABF2" "" "" "0000292051" "00244" "00398962" "00006" "Familial, autosomal recessive" "26y" "newborn hypotonia; 2y6m-walk; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, no distal weakness; 14y-nocturnal noninvasive ventilation; scoliosis (16y-surgery); 19y-no cardiac involvement" "1d" "" "newborn hypotonia" "" "" "" "" "" "" "congenital myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000262465" "00261360" "1" "03395" "03395" "2019-08-15 19:11:46" "" "" "SEQ-NG" "DNA" "" "" "0000290494" "00289324" "1" "00006" "00006" "2020-03-03 16:44:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290495" "00289325" "1" "00006" "00006" "2020-03-03 16:44:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290496" "00289326" "1" "00006" "00006" "2020-03-03 16:44:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374976" "00373743" "1" "03395" "03395" "2021-05-19 21:40:06" "" "" "SEQ-NG" "DNA" "" "" "0000400207" "00398962" "1" "00006" "00006" "2022-01-14 16:20:15" "" "" "SEQ;SEQ-NG" "DNA" "" "gene or gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000262465" "TRIP4" "0000290494" "TRIP4" "0000290495" "TRIP4" "0000290496" "TRIP4" "0000374976" "TRIP4" ## 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 = 23 "{{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}}" "0000555132" "0" "50" "15" "64680168" "64680168" "subst" "0" "02327" "KIAA0101_000001" "g.64680168G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64387969G>A" "" "VUS" "" "0000555133" "0" "30" "15" "64687589" "64687589" "subst" "0" "01804" "TRIP4_000001" "g.64687589C>T" "" "" "" "TRIP4(NM_016213.4):c.272-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64395390C>T" "" "likely benign" "" "0000555134" "0" "30" "15" "64737274" "64737274" "subst" "4.12821E-6" "01804" "TRIP4_000002" "g.64737274G>C" "" "" "" "TRIP4(NM_016213.4):c.1645G>C (p.(Val549Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64445075G>C" "" "likely benign" "" "0000592760" "3" "70" "15" "64689911" "64689911" "subst" "0" "03395" "TRIP4_000003" "g.64689911G>A" "" "" "" "" "ACMG: PM2, PP3" "Germline" "yes" "" "0" "" "" "g.64397712G>A" "" "VUS" "ACMG" "0000615436" "0" "30" "15" "64687694" "64687694" "subst" "0.000467328" "02326" "TRIP4_000004" "g.64687694G>A" "" "" "" "TRIP4(NM_016213.5):c.369G>A (p.T123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64395495G>A" "" "likely benign" "" "0000615437" "0" "90" "15" "64693014" "64693014" "subst" "0" "01943" "TRIP4_000005" "g.64693014A>C" "" "" "" "TRIP4(NM_001321924.1):c.1A>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64400815A>C" "" "pathogenic" "" "0000615438" "0" "90" "15" "64716259" "64716259" "dup" "0" "02327" "TRIP4_000006" "g.64716259dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64424060dup" "" "pathogenic" "" "0000647172" "3" "90" "15" "64698591" "64698591" "subst" "8.12532E-6" "00006" "TRIP4_000007" "g.64698591C>T" "" "{PMID:Knierim 2016:26924529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.64406392C>T" "" "pathogenic (recessive)" "" "0000647173" "3" "90" "15" "64701816" "64701816" "subst" "1.21871E-5" "00006" "TRIP4_000008" "g.64701816C>T" "" "{PMID:Knierim 2016:26924529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.64409617C>T" "" "pathogenic (recessive)" "" "0000647174" "11" "90" "15" "64698591" "64698591" "subst" "8.12532E-6" "00006" "TRIP4_000007" "g.64698591C>T" "" "{PMID:Knierim 2016:26924529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.64406392C>T" "" "pathogenic (recessive)" "" "0000647176" "21" "90" "15" "64701816" "64701816" "subst" "1.21871E-5" "00006" "TRIP4_000008" "g.64701816C>T" "" "{PMID:Knierim 2016:26924529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.64409617C>T" "" "pathogenic (recessive)" "" "0000785953" "3" "70" "15" "64737308" "64737309" "ins" "0" "03395" "TRIP4_000009" "g.64737308_64737309insC" "Variant not found in online data sets" "" "" "" "ACMG/ClinGen:PM2_p, PVS1_m, PM3_p, PP4" "Germline" "yes" "" "0" "" "" "g.64445109_64445110insC" "" "VUS" "ACMG" "0000806867" "0" "30" "15" "64680161" "64680161" "subst" "0" "01804" "KIAA0101_000002" "g.64680161T>G" "" "" "" "TRIP4(NM_001321924.1):c.-676T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000832982" "1" "90" "15" "64680117" "64680118" "ins" "0" "00006" "TRIP4_000010" "g.64680117_64680118insCT" "" "{PMID:Natera-de Benito 2021:33333461}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.64387918_64387919insCT" "" "pathogenic (recessive)" "ACMG" "0000833007" "2" "90" "15" "64710766" "64710766" "del" "0" "00006" "TRIP4_000011" "g.64710766del" "" "{PMID:Natera-de Benito 2021:33333461}" "" "1197delA" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.64418567del" "" "pathogenic (recessive)" "ACMG" "0000863931" "0" "30" "15" "64686301" "64686301" "subst" "0.00182401" "02326" "TRIP4_000012" "g.64686301C>T" "" "" "" "TRIP4(NM_016213.5):c.258C>T (p.C86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892210" "0" "30" "15" "64701858" "64701858" "subst" "0.000426396" "02326" "TRIP4_000013" "g.64701858A>G" "" "" "" "TRIP4(NM_016213.5):c.874A>G (p.S292G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930415" "0" "30" "15" "64716258" "64716258" "subst" "0.000434797" "02326" "TRIP4_000014" "g.64716258C>A" "" "" "" "TRIP4(NM_016213.5):c.1387C>A (p.H463N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981350" "0" "50" "15" "64689901" "64689901" "subst" "2.43653E-5" "01804" "TRIP4_000015" "g.64689901C>T" "" "" "" "TRIP4(NM_016213.5):c.502C>T (p.(Arg168Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981351" "0" "50" "15" "64710891" "64710891" "subst" "4.07024E-5" "01804" "TRIP4_000016" "g.64710891A>T" "" "" "" "TRIP4(NM_016213.5):c.1322A>T (p.(Gln441Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040501" "0" "50" "15" "64680105" "64680105" "subst" "0" "01804" "KIAA0101_000003" "g.64680105T>C" "" "" "" "TRIP4(NM_016213.5):c.43T>C (p.(Trp15Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055161" "0" "50" "15" "64686186" "64686186" "subst" "1.24045E-5" "01804" "TRIP4_000017" "g.64686186A>G" "" "" "" "TRIP4(NM_016213.5):c.143A>G (p.(Tyr48Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055162" "0" "50" "15" "64706405" "64706405" "subst" "0.000300627" "01804" "TRIP4_000018" "g.64706405C>T" "" "" "" "TRIP4(NM_016213.5):c.1165C>T (p.(Pro389Ser))" "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 TRIP4 ## Count = 23 "{{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}}" "0000555132" "00021869" "50" "101" "5" "101" "5" "c.101+5G>A" "r.spl?" "p.?" "" "0000555133" "00021869" "30" "272" "-8" "272" "-8" "c.272-8C>T" "r.(=)" "p.(=)" "" "0000555134" "00021869" "30" "1645" "0" "1645" "0" "c.1645G>C" "r.(?)" "p.(Val549Leu)" "" "0000592760" "00021869" "70" "512" "0" "512" "0" "c.512G>A" "c.512G>A" "p.(Cys171Tyr)" "4" "0000615436" "00021869" "30" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Thr123=)" "" "0000615437" "00021869" "90" "691" "0" "691" "0" "c.691A>C" "r.(?)" "p.(Met231Leu)" "" "0000615438" "00021869" "90" "1388" "0" "1388" "0" "c.1388dup" "r.(?)" "p.(His463GlnfsTer12)" "" "0000647172" "00021869" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254*)" "" "0000647173" "00021869" "90" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278*)" "" "0000647174" "00021869" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254*)" "" "0000647176" "00021869" "90" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278*)" "" "0000785953" "00021869" "70" "1678" "1" "1678" "2" "c.1678+1_1678+2insC" "r.spl?" "p.(Phe526Glyfs*13)" "" "0000806867" "00021869" "30" "99" "0" "99" "0" "c.99T>G" "r.(?)" "p.(Ile33Met)" "" "0000832982" "00021869" "70" "55" "0" "56" "0" "c.55_56insCT" "r.(?)" "p.(Gln19ProfsTer47)" "" "0000833007" "00021869" "90" "1197" "0" "1197" "0" "c.1197del" "r.(?)" "p.(Gln400ArgfsTer12)" "" "0000863931" "00021869" "30" "258" "0" "258" "0" "c.258C>T" "r.(?)" "p.(Cys86=)" "" "0000892210" "00021869" "30" "874" "0" "874" "0" "c.874A>G" "r.(?)" "p.(Ser292Gly)" "" "0000930415" "00021869" "30" "1387" "0" "1387" "0" "c.1387C>A" "r.(?)" "p.(His463Asn)" "" "0000981350" "00021869" "50" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "" "0000981351" "00021869" "50" "1322" "0" "1322" "0" "c.1322A>T" "r.(?)" "p.(Gln441Leu)" "" "0001040501" "00021869" "50" "43" "0" "43" "0" "c.43T>C" "r.(?)" "p.(Trp15Arg)" "" "0001055161" "00021869" "50" "143" "0" "143" "0" "c.143A>G" "r.(?)" "p.(Tyr48Cys)" "" "0001055162" "00021869" "50" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Pro389Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000262465" "0000592760" "0000290494" "0000647172" "0000290495" "0000647173" "0000290496" "0000647174" "0000290496" "0000647176" "0000374976" "0000785953" "0000400207" "0000832982" "0000400207" "0000833007"