### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TARS2) # 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}}" "TARS2" "threonyl-tRNA synthetase 2, mitochondrial (putative)" "1" "q21.2" "unknown" "NC_000001.10" "UD_138313805571" "" "" "" "1" "1" "30740" "80222" "612805" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "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 = 3 "{{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}}" "00001212" "TARS2" "transcript variant 1" "001" "NM_025150.4" "" "NP_079426.2" "" "" "" "-87" "2702" "2157" "150459840" "150480085" "00001" "2013-11-12 21:58:20" "" "" "" "1" "00001213" "TARS2" "transcript variant 2" "002" "NM_001271895.1" "" "NP_001258824.1" "" "" "" "-87" "2456" "1911" "150459840" "150480085" "00001" "2013-11-12 21:58:20" "" "" "" "1" "00001214" "TARS2" "transcript variant 3" "003" "NM_001271896.1" "" "NP_001258825.1" "" "" "" "-87" "2312" "1767" "150459840" "150480085" "00001" "2013-11-12 21:58:20" "" "" "" "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}}" "00501" "615918" "?Combined oxidative phosphorylation deficiency 21, 615918 (3)" "615918" "" "" "" "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}}" "TARS2" "00501" ## 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 = 5 "{{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}}" "0000000079" "0" "99" "1" "150464141" "150464141" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:40" "TARS2_000002" "g.150464141A>G" "" "" "" "NA" "subst" "0" ";" "2.110" "" "" "" "" "MSCV_0000079" "" "0000000080" "0" "99" "1" "150469028" "150469028" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-01-27 07:57:26" "TARS2_000001" "g.150469028C>T" "" "" "" "NA" "subst" "0" ";" "4.920" "" "" "" "" "MSCV_0000080" "" "0000015547" "0" "99" "1" "150464141" "150464141" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-10-24 20:25:40" "TARS2_000002" "g.150464141A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000079" "" "0000015548" "0" "99" "1" "150469028" "150469028" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-10-24 21:04:54" "TARS2_000001" "g.150469028C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000080" "" "0000023779" "0" "00" "1" "150461502" "150461502" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-10-25 17:22:02" "TARS2_000003" "g.150461502G>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 = 15 "{{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}}" "0000000079" "00001212" "00" "695" "3" "695" "3" "c.695+3A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000079" "00001213" "00" "695" "3" "695" "3" "c.695+3A>G" "" "" "" "" "" "" "" "" "-" "0000000079" "00001214" "00" "630" "154" "630" "154" "c.630+154A>G" "" "" "" "" "" "" "" "" "-" "0000000080" "00001212" "00" "845" "0" "845" "0" "c.845C>T" "8/18" "p.(Pro282Leu)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000000080" "00001213" "00" "775" "-978" "775" "-978" "c.775-978C>T" "" "" "" "" "" "" "" "" "-" "0000000080" "00001214" "00" "631" "-978" "631" "-978" "c.631-978C>T" "" "" "" "" "" "" "" "" "-" "0000015547" "00001212" "00" "695" "3" "695" "3" "c.695+3A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015547" "00001213" "00" "695" "3" "695" "3" "c.695+3A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015547" "00001214" "00" "630" "154" "630" "154" "c.630+154A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015548" "00001212" "00" "845" "0" "845" "0" "c.845C>T" "" "p.(Pro282Leu)" "r.(?)" "" "" "" "" "" "-" "0000015548" "00001213" "00" "775" "-978" "775" "-978" "c.775-978C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015548" "00001214" "00" "631" "-978" "631" "-978" "c.631-978C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023779" "00001212" "00" "326" "0" "326" "0" "c.326G>A" "" "p.(Arg109Gln)" "r.(?)" "" "" "" "" "" "-" "0000023779" "00001213" "00" "326" "0" "326" "0" "c.326G>A" "" "p.(Arg109Gln)" "r.(?)" "" "" "" "" "" "-" "0000023779" "00001214" "00" "326" "0" "326" "0" "c.326G>A" "" "p.(Arg109Gln)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0