### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WARS2) # 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}}" "WARS2" "tryptophanyl tRNA synthetase 2, mitochondrial" "1" "p12" "unknown" "NC_000001.10" "UD_138314354250" "" "" "" "1" "1" "12730" "10352" "604733" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "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 = 5 "{{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}}" "00001293" "WARS2" "transcript variant X3" "001" "XM_005270352.1" "" "XP_005270409.1" "" "" "" "-137" "2692" "579" "119683404" "119573839" "00001" "2013-11-12 22:00:21" "" "" "" "1" "00001294" "WARS2" "transcript variant X2" "002" "XM_005270351.1" "" "XP_005270408.1" "" "" "" "-130" "2607" "912" "119683397" "119573839" "00001" "2013-11-12 22:00:21" "" "" "" "1" "00001295" "WARS2" "transcript variant 1" "003" "NM_015836.3" "" "NP_056651.1" "" "" "" "-28" "2778" "1083" "119683295" "119573839" "00001" "2013-11-12 22:00:21" "" "" "" "1" "00001296" "WARS2" "transcript variant 2" "004" "NM_201263.2" "" "NP_957715.1" "" "" "" "-28" "2807" "663" "119683295" "119573839" "00001" "2013-11-12 22:00:21" "" "" "" "1" "00001297" "WARS2" "transcript variant X1" "005" "XM_005270350.1" "" "XP_005270407.1" "" "" "" "-166" "2724" "1029" "119625164" "119573839" "00001" "2013-11-12 22:00:21" "" "" "" "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}}" "00533" "617710" "Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3)" "617710" "" "" "" "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}}" "WARS2" "00533" ## 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 = 8 "{{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}}" "0000015505" "0" "55" "1" "119575679" "119575679" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-11-05 06:49:41" "WARS2_000007" "g.119575679T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015505" "" "0000015506" "0" "00" "1" "119575820" "119575820" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-11-11 19:37:05" "WARS2_000004" "g.119575820del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015506" "" "0000015507" "0" "99" "1" "119576820" "119576820" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-11-11 20:14:50" "WARS2_000005" "g.119576820C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015507" "" "0000015508" "0" "99" "1" "119618996" "119618996" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-11-11 22:08:29" "WARS2_000006" "g.119618996del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015508" "" "0000015509" "0" "00" "1" "119619021" "119619023" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-11-11 21:30:36" "WARS2_000001" "g.119619021_119619023del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015509" "" "0000015510" "0" "99" "1" "119619187" "119619187" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-11-05 07:27:28" "WARS2_000002" "g.119619187C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015510" "" "0000015511" "0" "99" "1" "119683231" "119683231" "subst" "35" "0.00269107" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-11-11 20:52:51" "WARS2_000003" "g.119683231A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015511" "" "0000023773" "0" "00" "1" "119619004" "119619004" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-11-11 18:59:04" "WARS2_000008" "g.119619004G>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 = 39 "{{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}}" "0000015505" "00001293" "00" "852" "0" "852" "0" "c.*273A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015505" "00001294" "00" "767" "0" "767" "0" "c.767A>T" "" "p.(Lys256Met)" "r.(?)" "" "" "" "" "" "-" "0000015505" "00001295" "00" "938" "0" "938" "0" "c.938A>T" "" "p.(Lys313Met)" "r.(?)" "" "" "" "" "" "-" "0000015505" "00001296" "00" "967" "0" "967" "0" "c.*304A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015505" "00001297" "00" "884" "0" "884" "0" "c.884A>T" "" "p.(Lys295Met)" "r.(?)" "" "" "" "" "" "-" "0000015506" "00001293" "00" "711" "0" "711" "0" "c.*132del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015506" "00001294" "00" "626" "0" "626" "0" "c.626del" "" "p.(Pro209Argfs*10)" "r.(?)" "" "" "" "" "" "-" "0000015506" "00001295" "00" "797" "0" "797" "0" "c.797del" "" "p.(Pro266Argfs*10)" "r.(?)" "" "" "" "" "" "-" "0000015506" "00001296" "00" "826" "0" "826" "0" "c.*163del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015506" "00001297" "00" "743" "0" "743" "0" "c.743del" "" "p.(Pro248Argfs*10)" "r.(?)" "" "" "" "" "" "-" "0000015507" "00001293" "00" "446" "0" "446" "0" "c.446G>C" "" "p.(Cys149Ser)" "r.(?)" "" "" "" "" "" "-" "0000015507" "00001294" "00" "361" "0" "361" "0" "c.361G>C" "" "p.(Val121Leu)" "r.(?)" "" "" "" "" "" "-" "0000015507" "00001295" "00" "532" "0" "532" "0" "c.532G>C" "" "p.(Val178Leu)" "r.(?)" "" "" "" "" "" "-" "0000015507" "00001296" "00" "532" "0" "532" "0" "c.532G>C" "" "p.(Val178Leu)" "r.(?)" "" "" "" "" "" "-" "0000015507" "00001297" "00" "478" "0" "478" "0" "c.478G>C" "" "p.(Val160Leu)" "r.(?)" "" "" "" "" "" "-" "0000015508" "00001293" "00" "325" "0" "325" "0" "c.325del" "" "p.(Ser109Alafs*15)" "r.(?)" "" "" "" "" "" "-" "0000015508" "00001294" "00" "177" "148" "177" "148" "c.177+148del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015508" "00001295" "00" "325" "0" "325" "0" "c.325del" "" "p.(Ser109Alafs*15)" "r.(?)" "" "" "" "" "" "-" "0000015508" "00001296" "00" "325" "0" "325" "0" "c.325del" "" "p.(Ser109Alafs*15)" "r.(?)" "" "" "" "" "" "-" "0000015508" "00001297" "00" "271" "0" "271" "0" "c.271del" "" "p.(Ser91Alafs*15)" "r.(?)" "" "" "" "" "" "-" "0000015509" "00001293" "00" "298" "0" "300" "0" "c.298_300del" "" "p.(Leu100del)" "r.(?)" "" "" "" "" "" "-" "0000015509" "00001294" "00" "177" "121" "177" "123" "c.177+121_177+123del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015509" "00001295" "00" "298" "0" "300" "0" "c.298_300del" "" "p.(Leu100del)" "r.(?)" "" "" "" "" "" "-" "0000015509" "00001296" "00" "298" "0" "300" "0" "c.298_300del" "" "p.(Leu100del)" "r.(?)" "" "" "" "" "" "-" "0000015509" "00001297" "00" "244" "0" "246" "0" "c.244_246del" "" "p.(Leu82del)" "r.(?)" "" "" "" "" "" "-" "0000015510" "00001293" "00" "134" "0" "134" "0" "c.134G>T" "" "p.(Gly45Val)" "r.(?)" "" "" "" "" "" "-" "0000015510" "00001294" "00" "134" "0" "134" "0" "c.134G>T" "" "p.(Gly45Val)" "r.(?)" "" "" "" "" "" "-" "0000015510" "00001295" "00" "134" "0" "134" "0" "c.134G>T" "" "p.(Gly45Val)" "r.(?)" "" "" "" "" "" "-" "0000015510" "00001296" "00" "134" "0" "134" "0" "c.134G>T" "" "p.(Gly45Val)" "r.(?)" "" "" "" "" "" "-" "0000015510" "00001297" "00" "80" "0" "80" "0" "c.80G>T" "" "p.(Gly27Val)" "r.(?)" "" "" "" "" "" "-" "0000015511" "00001293" "00" "37" "0" "37" "0" "c.37T>G" "" "p.(Trp13Gly)" "r.(?)" "" "" "" "" "" "-" "0000015511" "00001294" "00" "37" "0" "37" "0" "c.37T>G" "" "p.(Trp13Gly)" "r.(?)" "" "" "" "" "" "-" "0000015511" "00001295" "00" "37" "0" "37" "0" "c.37T>G" "" "p.(Trp13Gly)" "r.(?)" "" "" "" "" "" "-" "0000015511" "00001296" "00" "37" "0" "37" "0" "c.37T>G" "" "p.(Trp13Gly)" "r.(?)" "" "" "" "" "" "-" "0000023773" "00001293" "00" "317" "0" "317" "0" "c.317C>T" "" "p.(Pro106Leu)" "r.(?)" "" "" "" "" "" "-" "0000023773" "00001294" "00" "177" "140" "177" "140" "c.177+140C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023773" "00001295" "00" "317" "0" "317" "0" "c.317C>T" "" "p.(Pro106Leu)" "r.(?)" "" "" "" "" "" "-" "0000023773" "00001296" "00" "317" "0" "317" "0" "c.317C>T" "" "p.(Pro106Leu)" "r.(?)" "" "" "" "" "" "-" "0000023773" "00001297" "00" "263" "0" "263" "0" "c.263C>T" "" "p.(Pro88Leu)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0