### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LARS2) # 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}}" "LARS2" "leucyl-tRNA synthetase 2, mitochondrial" "3" "p21.3" "unknown" "NC_000003.11" "UD_138306179685" "" "" "" "1" "1" "17095" "23395" "604544" "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 = 2 "{{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}}" "00000851" "LARS2" "transcript variant X1" "001" "XM_005265006.1" "" "XP_005265063.1" "" "" "" "-141" "4024" "2712" "45430053" "45590334" "00001" "2013-11-12 21:46:54" "" "" "" "3" "00000852" "LARS2" "leucyl-tRNA synthetase 2, mitochondrial" "002" "NM_015340.3" "" "NP_056155.1" "" "" "" "-185" "4018" "2712" "45430075" "45590328" "00001" "2013-11-12 21:46:54" "" "" "" "3" ## 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}}" "00116" "PRLTS4" "Perrault syndrome 4, 615300 (3)" "615300" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LARS2" "00116" ## 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 = 15 "{{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}}" "0000000931" "0" "55" "3" "45527241" "45527241" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-02-08 10:18:35" "LARS2_000003" "g.45527241del" "" "{PMID:23541342:23541342}" "" "rs398123037" "del" "0" ";" "5.370" "" "" "" "" "MSCV_0000931" "" "0000000932" "0" "99" "3" "45527242" "45527242" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-02-08 10:19:16" "LARS2_000004" "g.45527242del" "" "" "" "" "del" "0" ";" "-10.200" "" "" "" "" "MSCV_0000932" "" "0000000933" "0" "99" "3" "45537808" "45537808" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:03:48" "LARS2_000001" "g.45537808C>A" "" "{PMID:23541342:23541342}" "" "rs199589947" "subst" "0" "; clinvar;" "5.490" "" "" "" "" "MSCV_0000933" "" "0000000934" "0" "99" "3" "45557610" "45557610" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-10-21 20:49:24" "LARS2_000002" "g.45557610C>T" "" "{PMID:23541342:23541342}" "" "rs398123036" "subst" "0" "; clinvar;" "5.390" "" "" "" "" "MSCV_0000934" "" "0000020302" "0" "99" "3" "45458981" "45458981" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-06 08:59:00" "LARS2_000005" "g.45458981A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020302" "" "0000020303" "0" "77" "3" "45488422" "45488422" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-25 04:05:46" "LARS2_000009" "g.45488422C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020303" "" "0000020304" "0" "99" "3" "45518000" "45518000" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:49:05" "LARS2_000010" "g.45518000C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020304" "" "0000020305" "0" "99" "3" "45527241" "45527241" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:49:08" "LARS2_000003" "g.45527241del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000931" "" "0000020306" "0" "99" "3" "45537808" "45537808" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:44" "LARS2_000001" "g.45537808C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000933" "" "0000020307" "0" "33" "3" "45542003" "45542003" "subst" "35" "0.00207597" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:48" "LARS2_000008" "g.45542003C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020307" "" "0000020308" "0" "99" "3" "45557610" "45557610" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:50:18" "LARS2_000002" "g.45557610C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000934" "" "0000020309" "0" "99" "3" "45557636" "45557636" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:19:44" "LARS2_000007" "g.45557636G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020309" "" "0000020310" "0" "99" "3" "45557711" "45557711" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-25 04:44:03" "LARS2_000006" "g.45557711C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020310" "" "0000026059" "0" "00" "3" "45527280" "45527280" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:25:34" "LARS2_000012" "g.45527280C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026060" "0" "00" "3" "45554680" "45554680" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:49:46" "LARS2_000011" "g.45554680G>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 = 30 "{{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}}" "0000000931" "00000851" "55" "1076" "0" "1076" "0" "c.1076del" "" "p.(Ile360Phefs*15)" "r.(?)" "" "" "" "" "" "-" "0000000931" "00000852" "55" "1076" "0" "1076" "0" "c.1076del" "" "p.(Ile360Phefs*15)" "r.(?)" "" "" "" "" "" "-" "0000000932" "00000851" "55" "1077" "0" "1077" "0" "c.1077del" "" "p.(Ile360Phefs*15)" "r.(?)" "" "" "" "" "" "-" "0000000932" "00000852" "55" "1077" "0" "1077" "0" "c.1077del" "" "p.(Ile360Phefs*15)" "r.(?)" "" "" "" "" "" "-" "0000000933" "00000851" "99" "1565" "0" "1565" "0" "c.1565C>A" "14/22" "p.(Thr522Asn)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000933" "00000852" "99" "1565" "0" "1565" "0" "c.1565C>A" "14/22" "p.(Thr522Asn)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000934" "00000851" "99" "1886" "0" "1886" "0" "c.1886C>T" "17/22" "p.(Thr629Met)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000934" "00000852" "99" "1886" "0" "1886" "0" "c.1886C>T" "17/22" "p.(Thr629Met)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0.01)" "0000020302" "00000851" "00" "371" "0" "371" "0" "c.371A>T" "" "p.(Asn124Ile)" "r.(?)" "" "" "" "" "" "-" "0000020302" "00000852" "00" "371" "0" "371" "0" "c.371A>T" "" "p.(Asn124Ile)" "r.(?)" "" "" "" "" "" "-" "0000020303" "00000851" "00" "556" "0" "556" "0" "c.556C>T" "" "p.(Gln186*)" "r.(?)" "" "" "" "" "" "-" "0000020303" "00000852" "00" "556" "0" "556" "0" "c.556C>T" "" "p.(Gln186*)" "r.(?)" "" "" "" "" "" "-" "0000020304" "00000851" "00" "899" "0" "899" "0" "c.899C>T" "" "p.(Thr300Met)" "r.(?)" "" "" "" "" "" "-" "0000020304" "00000852" "00" "899" "0" "899" "0" "c.899C>T" "" "p.(Thr300Met)" "r.(?)" "" "" "" "" "" "-" "0000020305" "00000851" "00" "1076" "0" "1076" "0" "c.1076del" "" "p.(Ile360Phefs*15)" "r.(?)" "" "" "" "" "" "-" "0000020305" "00000852" "00" "1076" "0" "1076" "0" "c.1076del" "" "p.(Ile360Phefs*15)" "r.(?)" "" "" "" "" "" "-" "0000020306" "00000851" "00" "1565" "0" "1565" "0" "c.1565C>A" "" "p.(Thr522Asn)" "r.(?)" "" "" "" "" "" "-" "0000020306" "00000852" "00" "1565" "0" "1565" "0" "c.1565C>A" "" "p.(Thr522Asn)" "r.(?)" "" "" "" "" "" "-" "0000020307" "00000851" "00" "1692" "0" "1692" "0" "c.1692C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020307" "00000852" "00" "1692" "0" "1692" "0" "c.1692C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020308" "00000851" "00" "1886" "0" "1886" "0" "c.1886C>T" "" "p.(Thr629Met)" "r.(?)" "" "" "" "" "" "-" "0000020308" "00000852" "00" "1886" "0" "1886" "0" "c.1886C>T" "" "p.(Thr629Met)" "r.(?)" "" "" "" "" "" "-" "0000020309" "00000851" "00" "1912" "0" "1912" "0" "c.1912G>A" "" "p.(Glu638Lys)" "r.(?)" "" "" "" "" "" "-" "0000020309" "00000852" "00" "1912" "0" "1912" "0" "c.1912G>A" "" "p.(Glu638Lys)" "r.(?)" "" "" "" "" "" "-" "0000020310" "00000851" "00" "1987" "0" "1987" "0" "c.1987C>T" "" "p.(Arg663Trp)" "r.(?)" "" "" "" "" "" "-" "0000020310" "00000852" "00" "1987" "0" "1987" "0" "c.1987C>T" "" "p.(Arg663Trp)" "r.(?)" "" "" "" "" "" "-" "0000026059" "00000851" "00" "1115" "0" "1115" "0" "c.1115C>G" "" "p.(Ser372*)" "r.(?)" "" "" "" "" "" "-" "0000026059" "00000852" "00" "1115" "0" "1115" "0" "c.1115C>G" "" "p.(Ser372*)" "r.(?)" "" "" "" "" "" "-" "0000026060" "00000851" "00" "1814" "0" "1814" "0" "c.1814G>A" "" "p.(Arg605His)" "r.(?)" "" "" "" "" "" "-" "0000026060" "00000852" "00" "1814" "0" "1814" "0" "c.1814G>A" "" "p.(Arg605His)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0