### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACSL5) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "ACSL5" "acyl-CoA synthetase long-chain family member 5" "10" "q25.1-q25.2" "unknown" "NC_000010.10" "UD_132319378530" "" "http://www.LOVD.nl/ACSL5" "" "1" "16526" "51703" "605677" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ACSL5_NM_203379.1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-10 19:09:33" "00006" "2025-06-11 21:31:07" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00025857" "ACSL5" "transcript variant 2" "001" "NM_203379.1" "" "NP_976313.1" "" "" "" "-141" "3074" "2052" "114133916" "114188138" "00006" "2023-10-10 18:04:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01440" "MGR1" "migraine, susceptibility 1 (MGR-1)" "AD" "157300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05288" "DIAR" "diarrhea (DIAR)" "" "" "" "" "" "00006" "2017-06-23 13:12:10" "" "" "07033" "DIAR13" "diarrhea, type 13" "AR" "620357" "" "" "" "00006" "2023-10-10 18:15:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ACSL5" "05288" "ACSL5" "07033" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00060251" "" "" "" "1" "" "01570" "{PMID:Matesanz 2016:27189022}, {DOI:Matesanz 2016:10.1038/ejhg.2016.54}" "" "" "" "Spain" "" "0" "" "" "" "" "00436804" "" "" "" "1" "cc_by-nc-sa_4.0;1" "04578" "female infant" "" "F" "yes" "Iran" "" "0" "" "low-fat medium-chain triglyceride (MCT) based formula" "" "patient" "00465864" "" "" "" "3" "" "00006" "{PMID:Iqbal 2015:25704603}" "2-generation family, 3 affected, unaffected parents" "F" "" "Netherlands" "" "0" "" "" "" "FamW10-3099" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00060251" "01440" "00436804" "00198" "00465864" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01440, 05288, 07033 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000046749" "01440" "00060251" "01570" "Complex" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000326907" "00198" "00436804" "04578" "Unknown" "00y04m" "Restlessness and prolonged episodes of nocturnal crying, nausea, vomiting, diarrhea, and appetite loss" "" "00y05m" "" "" "" "" "" "" "" "failure to thrive" "" "0000351313" "00139" "00465864" "00006" "Familial, autosomal recessive" "" "dsee paper; ..., moderate-severe intellectual disability; neonatal period cried excessively; psychomotor development delayed; progressive tremor; small hand length" "" "" "" "" "" "" "" "" "MRT48" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000060241" "00060251" "1" "01570" "01570" "2016-03-22 11:51:57" "00006" "2016-03-24 09:33:53" "RT-PCR;SEQ;TaqMan" "DNA;RNA" "lymphoblastoid cell lines" "" "0000438283" "00436804" "1" "04578" "04578" "2023-10-07 18:48:52" "" "" "-" "DNA" "" "" "0000467515" "00465864" "1" "00006" "00006" "2025-06-10 16:23:04" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000060241" "ACSL5" "0000438283" "ACSL5" ## 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 = 4 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000091269" "3" "90" "10" "114186624" "114186624" "subst" "0.930618" "01570" "ACSL5_000001" "g.114186624G>A" "0.0361" "{PMID:Matesanz 2016:27189022}, {DOI:Matesanz 2016:10.1038/ejhg.2016.54}" "" "NM_016234.3:c.2079+7G>A" "variant is in total linkage disequilibrium with the migraine GWAS associated variant rs12355831: Anttila V Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nat Genet. 2013-06-23" "Germline" "?" "rs2256368" "0" "" "" "g.112426866G>A" "" "association" "" "0000539192" "0" "30" "10" "114169309" "114169309" "subst" "0.000186873" "01943" "ACSL5_000002" "g.114169309G>T" "" "" "" "ACSL5(NM_203380.1):c.577G>T (p.V193L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112409551G>T" "" "likely benign" "" "0000933896" "3" "70" "10" "114182186" "114182186" "subst" "0" "04578" "ACSL5_000003" "g.114182186G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.112422428G>A" "" "VUS" "ACMG" "0001045342" "3" "70" "10" "114176777" "114176777" "subst" "0" "00006" "ACSL5_000004" "g.114176777C>G" "" "{PMID:Iqbal 2015:25704603}" "" "" "" "Germline" "no" "" "0" "" "" "g.112417019C>G" "" "VUS" "" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes ACSL5 ## Count = 4 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000091269" "00025857" "90" "1911" "7" "1911" "7" "c.1911+7G>A" "r.1840_1911del" "p.Val614_Val637del" "" "0000539192" "00025857" "30" "577" "0" "577" "0" "c.577G>T" "r.(?)" "p.(Val193Leu)" "" "0000933896" "00025857" "70" "1580" "0" "1580" "0" "c.1580G>A" "r.(?)" "p.(Gly527Asp)" "" "0001045342" "00025857" "70" "1215" "0" "1215" "0" "c.1215C>G" "r.(?)" "p.(Ile405Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000060241" "0000091269" "0000438283" "0000933896" "0000467515" "0001045342"