### LOVD-version 3000-210 ### 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "TRIT1" "tRNA isopentenyltransferase 1" "1" "p34.2" "unknown" "NC_000001.10" "UD_132455734919" "" "" "" "1" "1" "20286" "54802" "" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 16:06:56" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "{{iNote}}" "{{chrom}}" "00003053" "TRIT1" "tRNA isopentenyltransferase 1" "001" "NM_017646.4" "" "NP_060116.2" "" "" "" "-14" "2117" "1404" "40349177" "40306703" "00001" "2013-11-15 16:31:48" "" "" "" "1" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00564" "617873" "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35" "617873" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TRIT1" "00564" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 6 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000023675" "0" "00" "1" "40307564" "40307564" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:01:35" "TRIT1_000001" "g.40307564T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023676" "0" "00" "1" "40309803" "40309803" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-02 19:45:24" "TRIT1_000002" "g.40309803G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023677" "0" "00" "1" "40312930" "40312930" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:01:48" "TRIT1_000003" "g.40312930C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023678" "0" "00" "1" "40313292" "40313292" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-10-18 09:53:54" "TRIT1_000004" "g.40313292T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023679" "0" "00" "1" "40313300" "40313300" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-24 09:40:00" "TRIT1_000005" "g.40313300A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023680" "0" "00" "1" "40349142" "40349142" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:02:09" "TRIT1_000006" "g.40349142G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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. ## Count = 6 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000023675" "00003053" "00" "1256" "0" "1256" "0" "c.1256A>C" "" "p.(His419Pro)" "r.(?)" "" "" "" "" "" "-" "0000023676" "00003053" "00" "1204" "0" "1204" "0" "c.1204C>T" "" "p.(Arg402*)" "r.(?)" "" "" "" "" "" "-" "0000023677" "00003053" "00" "968" "0" "968" "0" "c.968G>A" "" "p.(Arg323Gln)" "r.(?)" "" "" "" "" "" "-" "0000023678" "00003053" "00" "856" "0" "856" "0" "c.856A>G" "" "p.(Lys286Glu)" "r.(?)" "" "" "" "" "" "-" "0000023679" "00003053" "00" "848" "0" "848" "0" "c.848T>G" "" "p.(Ile283Ser)" "r.(?)" "" "" "" "" "" "-" "0000023680" "00003053" "00" "22" "0" "22" "0" "c.22C>T" "" "p.(Arg8*)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0