### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HARS2) # 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}}" "HARS2" "histidyl-tRNA synthetase 2, mitochondrial" "5" "q31.3" "unknown" "NC_000005.9" "UD_138385377015" "" "" "" "1" "1" "4817" "23438" "600783" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "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 = 4 "{{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}}" "00000149" "HARS2" "transcript variant 3" "001" "NM_001278732.1" "" "NP_001265661.1" "" "" "" "-533" "1855" "1089" "140071011" "140078903" "00001" "2013-11-07 13:49:42" "" "" "" "5" "00000150" "HARS2" "transcript variant 1" "002" "NM_012208.3" "" "NP_036340.1" "" "" "" "-223" "2287" "1521" "140071011" "140078903" "00001" "2013-11-07 13:49:42" "" "" "" "5" "00000151" "HARS2" "transcript variant 2" "003" "NM_001278731.1" "" "NP_001265660.1" "" "" "" "-223" "2212" "1446" "140071011" "140078903" "00001" "2013-11-07 13:49:42" "" "" "" "5" "00000152" "HARS2" "transcript variant X1" "004" "XM_005268409.1" "" "XP_005268466.1" "" "" "" "-79" "1284" "1005" "140071155" "140078416" "00001" "2013-11-07 13:49:42" "" "" "" "5" ## 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}}" "00483" "PRLTS2" "PERRAULT SYNDROME 2; PRLTS2" "614926" "" "" "" "00001" "2014-08-15 12:13:02" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HARS2" "00483" ## 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 = 10 "{{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}}" "0000001160" "0" "99" "5" "140075395" "140075395" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:44" "HARS2_000001" "g.140075395C>G" "" "{PMID:21464306:21464306};{PMID:517579:517579}" "" "rs397515410" "subst" "0" "; clinvar;" "4.380" "" "" "" "" "MSCV_0001160" "" "0000021623" "0" "55" "5" "140071015" "140071015" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:06" "HARS_000011" "g.140071015A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021623" "" "0000021624" "0" "55" "5" "140071047" "140071047" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:13" "HARS_000012" "g.140071047C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021624" "" "0000021625" "0" "55" "5" "140071068" "140071068" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:20" "HARS_000013" "g.140071068G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021625" "" "0000021626" "0" "55" "5" "140071074" "140071074" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:25" "HARS_000014" "g.140071074C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021626" "" "0000021627" "0" "55" "5" "140071117" "140071117" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:32" "HARS_000015" "g.140071117G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021627" "" "0000021628" "0" "77" "5" "140071240" "140071240" "subst" "35" "0.000800512" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:44" "HARS_000016" "g.140071240C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021628" "" "0000021629" "0" "00" "5" "140075180" "140075181" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:50" "HARS2_000002" "g.140075180_140075181insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021629" "" "0000021630" "0" "99" "5" "140075395" "140075395" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:55" "HARS2_000001" "g.140075395C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001160" "" "0000021631" "0" "77" "5" "140076896" "140076896" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:01" "HARS2_000003" "g.140076896G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021631" "" ## 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 = 40 "{{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}}" "0000001160" "00000149" "99" "166" "0" "166" "0" "c.166C>G" "4/11" "p.(Leu56Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001160" "00000150" "99" "598" "0" "598" "0" "c.598C>G" "6/13" "p.?" "r.?" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000001160" "00000151" "99" "523" "0" "523" "0" "c.523C>G" "5/12" "p.(Leu175Val)" "r.(?)" "probably_damaging(0.991)" "" "missense_variant" "" "" "deleterious(0)" "0000001160" "00000152" "99" "181" "0" "181" "0" "c.181C>G" "2/8" "p.(Leu61Val)" "r.(?)" "probably_damaging(0.967)" "" "missense_variant" "" "" "deleterious(0)" "0000021623" "00000149" "00" "-529" "0" "-529" "0" "c.-529A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021623" "00000150" "00" "-219" "0" "-219" "0" "c.-219A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021623" "00000151" "00" "-219" "0" "-219" "0" "c.-219A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021623" "00000152" "00" "-79" "-140" "-79" "-140" "c.-219A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021624" "00000149" "00" "-497" "0" "-497" "0" "c.-497C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021624" "00000150" "00" "-187" "0" "-187" "0" "c.-187C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021624" "00000151" "00" "-187" "0" "-187" "0" "c.-187C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021624" "00000152" "00" "-79" "-108" "-79" "-108" "c.-187C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021625" "00000149" "00" "-476" "0" "-476" "0" "c.-476G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021625" "00000150" "00" "-166" "0" "-166" "0" "c.-166G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021625" "00000151" "00" "-166" "0" "-166" "0" "c.-166G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021625" "00000152" "00" "-79" "-87" "-79" "-87" "c.-166G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021626" "00000149" "00" "-470" "0" "-470" "0" "c.-470C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021626" "00000150" "00" "-160" "0" "-160" "0" "c.-160C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021626" "00000151" "00" "-160" "0" "-160" "0" "c.-160C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021626" "00000152" "00" "-79" "-81" "-79" "-81" "c.-160C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021627" "00000149" "00" "-427" "0" "-427" "0" "c.-427G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021627" "00000150" "00" "-117" "0" "-117" "0" "c.-117G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021627" "00000151" "00" "-117" "0" "-117" "0" "c.-117G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021627" "00000152" "00" "-79" "-38" "-79" "-38" "c.-117G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021628" "00000149" "00" "-304" "0" "-304" "0" "c.-304C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021628" "00000150" "00" "7" "0" "7" "0" "c.7C>G" "" "p.(Leu3Val)" "r.(?)" "" "" "" "" "" "-" "0000021628" "00000151" "00" "7" "0" "7" "0" "c.7C>G" "" "p.(Leu3Val)" "r.(?)" "" "" "" "" "" "-" "0000021628" "00000152" "00" "7" "0" "7" "0" "c.7C>G" "" "p.(Leu3Val)" "r.(?)" "" "" "" "" "" "-" "0000021629" "00000149" "00" "94" "-143" "94" "-142" "c.94-143_94-142insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021629" "00000150" "00" "487" "0" "488" "0" "c.487_488insC" "" "p.(Ile164Hisfs*7)" "r.(?)" "" "" "" "" "" "-" "0000021629" "00000151" "00" "412" "0" "413" "0" "c.412_413insC" "" "p.(Ile139Hisfs*7)" "r.(?)" "" "" "" "" "" "-" "0000021629" "00000152" "00" "109" "-143" "109" "-142" "c.109-143_109-142insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021630" "00000149" "00" "166" "0" "166" "0" "c.166C>G" "" "p.(Leu56Val)" "r.(?)" "" "" "" "" "" "-" "0000021630" "00000150" "00" "598" "0" "598" "0" "c.598C>G" "" "p.(Leu200Val)" "r.(?)" "" "" "" "" "" "-" "0000021630" "00000151" "00" "523" "0" "523" "0" "c.523C>G" "" "p.(Leu175Val)" "r.(?)" "" "" "" "" "" "-" "0000021630" "00000152" "00" "181" "0" "181" "0" "c.181C>G" "" "p.(Leu61Val)" "r.(?)" "" "" "" "" "" "-" "0000021631" "00000149" "00" "670" "0" "670" "0" "c.670G>T" "" "p.(Val224Leu)" "r.(?)" "" "" "" "" "" "-" "0000021631" "00000150" "00" "1102" "0" "1102" "0" "c.1102G>T" "" "p.(Val368Leu)" "r.(?)" "" "" "" "" "" "-" "0000021631" "00000151" "00" "1027" "0" "1027" "0" "c.1027G>T" "" "p.(Val343Leu)" "r.(?)" "" "" "" "" "" "-" "0000021631" "00000152" "00" "586" "0" "586" "0" "c.586G>T" "" "p.(Val196Leu)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0