### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACADL) # 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}}" "ACADL" "acyl-CoA dehydrogenase, long chain" "2" "q34" "unknown" "NC_000002.11" "UD_138297524797" "" "" "" "1" "1" "88" "33" "609576" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; 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 21:25:34" "" "" "" "" "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}}" "00000381" "ACADL" "transcript variant X1" "001" "XM_005246517.1" "" "XP_005246574.1" "" "" "" "-736" "2283" "1230" "211089872" "211052632" "00001" "2013-11-12 21:26:18" "" "" "" "2" "00000382" "ACADL" "acyl-CoA dehydrogenase, long chain" "002" "NM_001608.3" "" "NP_001599.1" "" "" "" "-228" "2264" "1293" "211090215" "211052714" "00001" "2013-11-12 21:26:18" "" "" "" "2" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 24 "{{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}}" "0000002845" "0" "55" "2" "211060050" "211060050" "subst" "35" "0.276565" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-28 16:28:44" "ACADL_000001" "g.211060050T>G" "" "{PMID:24591516:24591516}" "" "rs2286963" "subst" "0" "; Ensembl;" "5.770" "" "" "" "" "MSCV_0002845" "" "0000019465" "0" "55" "2" "211052757" "211052757" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:48:02" "ACADL_000002" "g.211052757T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019465" "" "0000019466" "0" "55" "2" "211052961" "211052961" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-08 22:20:34" "ACADL_000017" "g.211052961A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019466" "" "0000019467" "0" "55" "2" "211052974" "211052974" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-08 22:12:24" "ACADL_000018" "g.211052974C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019467" "" "0000019468" "0" "55" "2" "211053064" "211053064" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-08 22:07:43" "ACADL_000019" "g.211053064C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019468" "" "0000019469" "0" "55" "2" "211053155" "211053155" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-13 14:12:34" "ACADL_000020" "g.211053155A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019469" "" "0000019470" "0" "55" "2" "211057583" "211057583" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 17:48:07" "ACADL_000021" "g.211057583C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019470" "" "0000019471" "0" "11" "2" "211060050" "211060050" "subst" "35" "0.276565" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-08 22:09:23" "ACADL_000001" "g.211060050T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002845" "" "0000019472" "0" "55" "2" "211060055" "211060055" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-13 14:12:34" "ACADL_000003" "g.211060055T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019472" "" "0000019473" "0" "55" "2" "211068100" "211068100" "subst" "35" "0.000999692" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:28:51" "ACADL_000004" "g.211068100A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019473" "" "0000019474" "0" "33" "2" "211070470" "211070470" "subst" "35" "0.0106874" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-08 22:13:26" "ACADL_000005" "g.211070470G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019474" "" "0000019475" "0" "55" "2" "211070473" "211070473" "subst" "35" "0.000922651" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:17:29" "ACADL_000006" "g.211070473C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019475" "" "0000019476" "0" "55" "2" "211070495" "211070495" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 17:48:14" "ACADL_000007" "g.211070495C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019476" "" "0000019477" "0" "55" "2" "211070503" "211070503" "subst" "35" "0.000615101" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 17:48:00" "ACADL_000008" "g.211070503C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019477" "" "0000019478" "0" "11" "2" "211074909" "211074909" "subst" "35" "0.277257" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 17:48:03" "ACADL_000009" "g.211074909T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019478" "" "0000019479" "0" "55" "2" "211081233" "211081233" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 17:48:10" "ACADL_000010" "g.211081233G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019479" "" "0000019480" "0" "55" "2" "211082807" "211082807" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:47:52" "ACADL_000011" "g.211082807C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019480" "" "0000019481" "0" "55" "2" "211085358" "211085358" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-08 21:44:34" "ACADL_000012" "g.211085358A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019481" "" "0000019482" "0" "33" "2" "211085491" "211085491" "subst" "35" "0.0257573" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 19:48:18" "ACADL_000013" "g.211085491G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019482" "" "0000019483" "0" "55" "2" "211085510" "211085510" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 19:48:12" "ACADL_000014" "g.211085510C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019483" "" "0000019484" "0" "55" "2" "211085518" "211085518" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-02 21:45:36" "ACADL_000015" "g.211085518T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019484" "" "0000019485" "0" "55" "2" "211089981" "211089981" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:17:26" "ACADL_000016" "g.211089981C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019485" "" "0000025790" "0" "00" "2" "211068106" "211068111" "delins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-08 22:21:56" "ACADL_000022" "g.211068106_211068111delinsAAACATAACATTCATG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025791" "0" "00" "2" "211089963" "211089964" "ins" "35" "0.000176429" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:45:10" "ACADL_000023" "g.211089963_211089964insC" "" "" "" "" "" "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 = 48 "{{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}}" "0000002845" "00000381" "55" "934" "0" "934" "0" "c.934A>C" "9/11" "p.(Lys312Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002845" "00000382" "55" "997" "0" "997" "0" "c.997A>C" "9/11" "p.(Lys333Gln)" "r.(?)" "probably_damaging(0.965)" "" "missense_variant" "" "" "tolerated(0.06)" "0000019465" "00000381" "00" "2158" "0" "2158" "0" "c.*928A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019465" "00000382" "00" "2221" "0" "2221" "0" "c.*928A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019466" "00000381" "00" "1954" "0" "1954" "0" "c.*724T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019466" "00000382" "00" "2017" "0" "2017" "0" "c.*724T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019467" "00000381" "00" "1941" "0" "1941" "0" "c.*711G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019467" "00000382" "00" "2004" "0" "2004" "0" "c.*711G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019468" "00000381" "00" "1851" "0" "1851" "0" "c.*621G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019468" "00000382" "00" "1914" "0" "1914" "0" "c.*621G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019469" "00000381" "00" "1760" "0" "1760" "0" "c.*530T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019469" "00000382" "00" "1823" "0" "1823" "0" "c.*530T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019470" "00000381" "00" "1081" "0" "1081" "0" "c.1081G>A" "" "p.(Asp361Asn)" "r.(?)" "" "" "" "" "" "-" "0000019470" "00000382" "00" "1144" "0" "1144" "0" "c.1144G>A" "" "p.(Asp382Asn)" "r.(?)" "" "" "" "" "" "-" "0000019471" "00000381" "00" "934" "0" "934" "0" "c.934A>C" "" "p.(Lys312Gln)" "r.(?)" "" "" "" "" "" "-" "0000019471" "00000382" "00" "997" "0" "997" "0" "c.997A>C" "" "p.(Lys333Gln)" "r.(?)" "" "" "" "" "" "-" "0000019472" "00000381" "00" "929" "0" "929" "0" "c.929A>G" "" "p.(Gln310Arg)" "r.(?)" "" "" "" "" "" "-" "0000019472" "00000382" "00" "992" "0" "992" "0" "c.992A>G" "" "p.(Gln331Arg)" "r.(?)" "" "" "" "" "" "-" "0000019473" "00000381" "00" "876" "0" "876" "0" "c.876T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019473" "00000382" "00" "939" "0" "939" "0" "c.939T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019474" "00000381" "00" "591" "0" "591" "0" "c.591C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019474" "00000382" "00" "654" "0" "654" "0" "c.654C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019475" "00000381" "00" "588" "0" "588" "0" "c.588G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019475" "00000382" "00" "651" "0" "651" "0" "c.651G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019476" "00000381" "00" "566" "0" "566" "0" "c.566G>A" "" "p.(Ser189Asn)" "r.(?)" "" "" "" "" "" "-" "0000019476" "00000382" "00" "629" "0" "629" "0" "c.629G>A" "" "p.(Ser210Asn)" "r.(?)" "" "" "" "" "" "-" "0000019477" "00000381" "00" "558" "0" "558" "0" "c.558G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019477" "00000382" "00" "621" "0" "621" "0" "c.621G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019478" "00000381" "00" "540" "11" "540" "11" "c.540+11A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019478" "00000382" "00" "603" "11" "603" "11" "c.603+11A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019479" "00000381" "00" "311" "0" "311" "0" "c.311C>T" "" "p.(Ala104Val)" "r.(?)" "" "" "" "" "" "-" "0000019479" "00000382" "00" "374" "0" "374" "0" "c.374C>T" "" "p.(Ala125Val)" "r.(?)" "" "" "" "" "" "-" "0000019480" "00000381" "00" "190" "0" "190" "0" "c.190G>A" "" "p.(Val64Ile)" "r.(?)" "" "" "" "" "" "-" "0000019480" "00000382" "00" "253" "0" "253" "0" "c.253G>A" "" "p.(Val85Ile)" "r.(?)" "" "" "" "" "" "-" "0000019481" "00000381" "00" "170" "13" "170" "13" "c.170+13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019481" "00000382" "00" "233" "13" "233" "13" "c.233+13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019482" "00000381" "00" "50" "0" "50" "0" "c.50C>T" "" "p.(Thr17Ile)" "r.(?)" "" "" "" "" "" "-" "0000019482" "00000382" "00" "113" "0" "113" "0" "c.113C>T" "" "p.(Thr38Ile)" "r.(?)" "" "" "" "" "" "-" "0000019483" "00000381" "00" "31" "0" "31" "0" "c.31G>A" "" "p.(Gly11Arg)" "r.(?)" "" "" "" "" "" "-" "0000019483" "00000382" "00" "94" "0" "94" "0" "c.94G>A" "" "p.(Gly32Arg)" "r.(?)" "" "" "" "" "" "-" "0000019484" "00000381" "00" "23" "0" "23" "0" "c.23A>G" "" "p.(His8Arg)" "r.(?)" "" "" "" "" "" "-" "0000019484" "00000382" "00" "86" "0" "86" "0" "c.86A>G" "" "p.(His29Arg)" "r.(?)" "" "" "" "" "" "-" "0000019485" "00000381" "00" "-736" "-109" "-736" "-109" "c.-845G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019485" "00000382" "00" "7" "0" "7" "0" "c.7G>T" "" "p.(Ala3Ser)" "r.(?)" "" "" "" "" "" "-" "0000025790" "00000381" "00" "865" "0" "870" "0" "c.865_870delinsCATGAATGTTATGTTT" "" "p.(Thr289Hisfs*6)" "r.(?)" "" "" "" "" "" "-" "0000025790" "00000382" "00" "928" "0" "933" "0" "c.928_933delinsCATGAATGTTATGTTT" "" "p.(Thr310Hisfs*6)" "r.(?)" "" "" "" "" "" "-" "0000025791" "00000381" "00" "-736" "-92" "-736" "-91" "c.-828_-827insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025791" "00000382" "00" "24" "0" "25" "0" "c.24_25insG" "" "p.(Ser9Valfs*34)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0