### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRIT1) # 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}}" "TRIT1" "tRNA isopentenyltransferase 1" "1" "p34.2" "unknown" "NC_000001.10" "UD_132455734919" "" "https://www.LOVD.nl/TRIT1" "" "1" "20286" "54802" "617840" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/TRIT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-05-26 09:45:56" "00006" "2025-12-05 13:23:08" ## 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}}" "00021876" "TRIT1" "tRNA isopentenyltransferase 1" "001" "NM_017646.4" "" "NP_060116.2" "" "" "" "-14" "2117" "1404" "40349177" "40306703" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05163" "-" "mitochondrial respiratory chain deficiency" "" "" "" "" "" "00006" "2016-05-10 22:28:03" "00006" "2016-12-16 10:26:08" "05316" "COXPD" "combined oxidative phosphorylation deficiency" "" "" "" "" "" "00006" "2017-08-11 14:15:49" "" "" "06028" "COXPD35" "Combined oxidative phosphorylation deficiency 35" "AR" "617873" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TRIT1" "05316" "TRIT1" "06028" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00081477" "" "" "" "1" "" "01786" "{PMID:Kernohan 2017:28185376}" "" "F" "no" "United States" "" "0" "" "" "white" "Pat1" "00081478" "" "" "" "1" "" "01786" "{PMID:Kernohan 2017:28185376}" "" "F" "no" "Canada" "" "0" "" "" "white" "Pat2" "00081479" "" "" "" "2" "" "01786" "{PMID:Kernohan 2017:28185376}" "family, affected sister/brother" "F;M" "no" "United States" "" "0" "" "" "white" "Pat3/4" "00081547" "" "" "" "2" "" "00006" "{PMID:Yarham 2014:24901367}, {DOI:Yarham 2014:10.1371/journal.pgen.1004424}" "2-generation family, 2 affected sister/brother, unaffected heterozygous carrier parents" "F;M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "" "00289826" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00430720" "" "" "" "1" "" "03312" "" "" "" "yes" "Pakistan" "" "" "" "" "" "" "00470704" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat65" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00081477" "05163" "00081478" "05163" "00081479" "05163" "00081547" "00198" "00289826" "00198" "00430720" "04270" "00470704" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04270, 05163, 05316, 06028, 07210 ## Count = 5 "{{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}}" "0000061149" "05163" "00081477" "01786" "Familial, autosomal recessive" "04y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000061150" "05163" "00081478" "01786" "Familial, autosomal recessive" "09y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000061151" "05163" "00081479" "01786" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000061155" "00198" "00081547" "00006" "Familial, autosomal recessive" "" "see paper; ..., encephalopathy (HP:0001298) and myoclonic epilepsy (HP:0002123) due to multiple OXPHOS deficiencies in skeletal muscle" "" "" "" "" "" "" "" "" "" "" "" "0000355598" "07210" "00470704" "00006" "Isolated (sporadic)" "13y" "see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081607" "00081477" "1" "01786" "01786" "2016-10-14 20:30:09" "" "" "SEQ-NG" "DNA" "Blood" "" "0000081608" "00081478" "1" "01786" "01786" "2016-10-14 20:39:52" "" "" "SEQ-NG" "DNA" "Blood" "" "0000081609" "00081479" "1" "01786" "01786" "2016-10-14 20:44:31" "" "" "SEQ-NG" "DNA" "Blood" "" "0000081677" "00081547" "1" "00006" "00006" "2016-10-18 10:24:23" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000290994" "00289826" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000432131" "00430720" "1" "03312" "03312" "2023-01-23 07:46:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000472371" "00470704" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000081607" "TRIT1" "0000081608" "TRIT1" "0000081609" "TRIT1" "0000081677" "TRIT1" "0000432131" "TRIT1" ## 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 = 19 "{{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}}" "0000132277" "2" "90" "1" "40313300" "40313300" "subst" "3.65669E-5" "01786" "TRIT1_000002" "g.40313300A>C" "" "{PMID:Kernohan 2017:28185376}" "" "" "" "Germline" "yes" "rs199622789" "0" "" "" "g.39847628A>C" "" "pathogenic (recessive)" "" "0000132278" "1" "90" "1" "40307564" "40307564" "subst" "4.9525E-5" "01786" "TRIT1_000001" "g.40307564T>G" "" "{PMID:Kernohan 2017:28185376}" "" "" "" "Germline" "yes" "rs566435653" "0" "" "" "g.39841892T>G" "" "pathogenic (recessive)" "" "0000132279" "1" "90" "1" "40307564" "40307564" "subst" "4.9525E-5" "01786" "TRIT1_000001" "g.40307564T>G" "" "{PMID:Kernohan 2017:28185376}" "" "" "" "Germline" "yes" "rs566435653" "0" "" "" "g.39841892T>G" "" "pathogenic (recessive)" "" "0000132280" "2" "90" "1" "40309803" "40309803" "subst" "1.21866E-5" "01786" "TRIT1_000003" "g.40309803G>A" "" "{PMID:Kernohan 2017:28185376}" "" "" "" "Germline" "yes" "rs367752391" "0" "" "" "g.39844131G>A" "" "pathogenic (recessive)" "" "0000132281" "1" "90" "1" "40313292" "40313292" "subst" "0" "01786" "TRIT1_000004" "g.40313292T>C" "" "{PMID:Kernohan 2017:28185376}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39847620T>C" "" "pathogenic (recessive)" "" "0000132282" "2" "90" "1" "40349142" "40349142" "subst" "0.000167867" "01786" "TRIT1_000005" "g.40349142G>A" "" "{PMID:Kernohan 2017:28185376}" "" "" "" "Germline" "yes" "rs184469579" "0" "" "" "g.39883470G>A" "" "pathogenic (recessive)" "" "0000132351" "3" "90" "1" "40312930" "40312930" "subst" "8.12381E-6" "00006" "TRIT1_000006" "g.40312930C>T" "" "{PMID:Yarham 2014:24901367}, {DOI:Yarham 2014:10.1371/journal.pgen.1004424}" "" "" "not in 120 control chromosomes; whole exome sequencing and homozygosity mapping" "Germline" "yes" "" "0" "" "" "g.39847258C>T" "" "pathogenic" "" "0000620626" "0" "70" "1" "40312919" "40312919" "subst" "0.00051592" "02329" "TRIT1_000007" "g.40312919G>A" "" "" "" "TRIT1(NM_017646.6):c.979C>T (p.(Arg327Ter), p.R327*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39847247G>A" "" "likely pathogenic" "" "0000620627" "0" "70" "1" "40313751" "40313751" "subst" "0" "02329" "TRIT1_000008" "g.40313751T>C" "" "" "" "TRIT1(NM_017646.6):c.722A>G (p.D241G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39848079T>C" "" "likely pathogenic" "" "0000647683" "1" "70" "1" "40349142" "40349142" "subst" "0.000167867" "03575" "TRIT1_000005" "g.40349142G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs184469579}" "Germline" "" "rs184469579" "0" "" "" "g.39883470G>A" "" "likely pathogenic" "" "0000799349" "0" "90" "1" "40319724" "40319724" "del" "0" "02325" "TRIT1_000009" "g.40319724del" "" "" "" "TRIT1(NM_017646.6):c.334del (p.(Arg112GlufsTer36)), TRIT1(NM_017646.6):c.334delC (p.R112Efs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799350" "0" "50" "1" "40349148" "40349148" "subst" "0.000437132" "02325" "TRIT1_000010" "g.40349148C>T" "" "" "" "TRIT1(NM_017646.6):c.16G>A (p.A6T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000917492" "3" "70" "1" "40312930" "40312930" "subst" "8.12381E-6" "03312" "TRIT1_000006" "g.40312930C>T" "" "Pending" "" "" "" "Germline" "yes" "" "0" "" "" "g.39847258C>T" "VCV000492943.4" "likely pathogenic" "ACMG" "0000973949" "0" "50" "1" "40309779" "40309779" "subst" "8.12651E-6" "01804" "TRIT1_000011" "g.40309779A>G" "" "" "" "TRIT1(NM_017646.6):c.1228T>C (p.(Trp410Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973950" "0" "90" "1" "40312919" "40312919" "subst" "0.00051592" "01804" "TRIT1_000007" "g.40312919G>A" "" "" "" "TRIT1(NM_017646.6):c.979C>T (p.(Arg327Ter), p.R327*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973951" "0" "50" "1" "40319688" "40319688" "subst" "1.62835E-5" "01804" "TRIT1_000012" "g.40319688T>C" "" "" "" "TRIT1(NM_017646.4):c.368A>G (p.(Asn123Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973952" "0" "70" "1" "40319724" "40319724" "del" "0" "01804" "TRIT1_000009" "g.40319724del" "" "" "" "TRIT1(NM_017646.6):c.334del (p.(Arg112GlufsTer36)), TRIT1(NM_017646.6):c.334delC (p.R112Efs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032037" "0" "50" "1" "40315898" "40315898" "subst" "0" "01804" "TRIT1_000013" "g.40315898T>G" "" "" "" "TRIT1(NM_017646.6):c.596A>C (p.(His199Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060811" "0" "70" "1" "40315914" "40315914" "subst" "0" "00006" "TRIT1_000014" "g.40315914C>A" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.39850242C>A" "" "likely pathogenic" "ACMG" ## 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 TRIT1 ## Count = 19 "{{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}}" "0000132277" "00021876" "90" "848" "0" "848" "0" "c.848T>G" "r.(848u>g)" "p.(Ile283Ser)" "7" "0000132278" "00021876" "90" "1256" "0" "1256" "0" "c.1256A>C" "r.(1256a>c)" "p.(His419Pro)" "11" "0000132279" "00021876" "90" "1256" "0" "1256" "0" "c.1256A>C" "r.(1256a>c)" "p.(His419Pro)" "11" "0000132280" "00021876" "90" "1204" "0" "1204" "0" "c.1204C>T" "r.(1204c>u)" "p.(Arg402*)" "10" "0000132281" "00021876" "90" "856" "0" "856" "0" "c.856A>G" "r.(856a>g)" "p.(Lys286Glu)" "7" "0000132282" "00021876" "90" "22" "0" "22" "0" "c.22C>T" "r.(22c>u)" "p.(Arg8*)" "1" "0000132351" "00021876" "90" "968" "0" "968" "0" "c.968G>A" "r.(968g>a)" "p.(Arg323Gln)" "8" "0000620626" "00021876" "70" "979" "0" "979" "0" "c.979C>T" "r.(?)" "p.(Arg327Ter)" "" "0000620627" "00021876" "70" "722" "0" "722" "0" "c.722A>G" "r.(?)" "p.(Asp241Gly)" "" "0000647683" "00021876" "70" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8*)" "" "0000799349" "00021876" "90" "334" "0" "334" "0" "c.334del" "r.(?)" "p.(Arg112Glufs*36)" "" "0000799350" "00021876" "50" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Ala6Thr)" "" "0000917492" "00021876" "70" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323Gln)" "" "0000973949" "00021876" "50" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Trp410Arg)" "" "0000973950" "00021876" "90" "979" "0" "979" "0" "c.979C>T" "r.(?)" "p.(Arg327Ter)" "" "0000973951" "00021876" "50" "368" "0" "368" "0" "c.368A>G" "r.(?)" "p.(Asn123Ser)" "" "0000973952" "00021876" "70" "334" "0" "334" "0" "c.334del" "r.(?)" "p.(Arg112Glufs*36)" "" "0001032037" "00021876" "50" "596" "0" "596" "0" "c.596A>C" "r.(?)" "p.(His199Pro)" "" "0001060811" "00021876" "70" "580" "0" "580" "0" "c.580G>T" "r.(?)" "p.(Glu194Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000081607" "0000132277" "0000081607" "0000132278" "0000081608" "0000132279" "0000081608" "0000132280" "0000081609" "0000132281" "0000081609" "0000132282" "0000081677" "0000132351" "0000290994" "0000647683" "0000432131" "0000917492" "0000472371" "0001060811"