### LOVD-version 3000-30b ### 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}}"	"{{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}}"
"ACADL"	"acyl-CoA dehydrogenase, long chain"	"2"	"q34-q35"	"unknown"	"NG_008002.1"	"UD_132118924781"	""	"http://www.LOVD.nl/ACADL"	""	"1"	"88"	"33"	"609576"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/ACADL_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2015-05-29 15:05:41"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00000031"	"ACADL"	"acyl-CoA dehydrogenase, long chain"	"001"	"NM_001608.3"	""	"NP_001599.1"	""	""	""	"-228"	"2264"	"1293"	"211090215"	"211052714"	"00002"	"2012-05-11 13:11:53"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{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}}"
"00000056"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00292557"	""	""	""	"13"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292558"	""	""	""	"140"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304779"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00292557"	"00198"
"00292558"	"00198"
"00304779"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000056"	"00000056"	"1"	"00004"	""	"2012-05-11 13:18:52"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000293725"	"00292557"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293726"	"00292558"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305908"	"00304779"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 14
"{{screeningid}}"	"{{geneid}}"
"0000000056"	"ACADL"
"0000000056"	"ADA"
"0000000056"	"ASPA"
"0000000056"	"ATP7B"
"0000000056"	"BTD"
"0000000056"	"CYP27A1"
"0000000056"	"DPYD"
"0000000056"	"ETFB"
"0000000056"	"GLB1"
"0000000056"	"HEXB"
"0000000056"	"IGHMBP2"
"0000000056"	"NPHS1"
"0000000056"	"SERPINA1"
"0000000056"	"SLC26A2"


## 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 = 6
"{{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}}"
"0000000839"	"0"	"90"	"2"	"211085456"	"211085456"	"subst"	"5.69657E-5"	"00002"	"ACADL_000001"	"g.211085456G>A"	""	"{PMID:Bell 2011:21228398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.210220732G>A"	""	"pathogenic"	""
"0000650414"	"1"	"30"	"2"	"211070402"	"211070402"	"subst"	"0.00179348"	"03575"	"ACADL_000002"	"g.211070402C>G"	"13/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"13 heterozygous, no homozygous; {DB:CLININrs146511220}"	"Germline"	""	"rs146511220"	"0"	""	""	"g.210205678C>G"	""	"likely benign"	""
"0000650415"	"1"	"30"	"2"	"211085491"	"211085491"	"subst"	"0.0253297"	"03575"	"ACADL_000003"	"g.211085491G>A"	"140/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"140 heterozygous; {DB:CLININrs61731470}"	"Germline"	""	"rs61731470"	"0"	""	""	"g.210220767G>A"	""	"likely benign"	""
"0000669596"	"3"	"30"	"2"	"211085491"	"211085491"	"subst"	"0.0253297"	"03575"	"ACADL_000003"	"g.211085491G>A"	"1/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs61731470}"	"Germline"	""	"rs61731470"	"0"	""	""	"g.210220767G>A"	""	"likely benign"	""
"0001032923"	"0"	"50"	"2"	"211081106"	"211081106"	"subst"	"0"	"01804"	"ACADL_000004"	"g.211081106A>T"	""	""	""	"ACADL(NM_001608.4):c.501T>A (p.(Ile167=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001063763"	"0"	"50"	"2"	"211085452"	"211085452"	"subst"	"8.13537E-6"	"01804"	"ACADL_000005"	"g.211085452C>A"	""	""	""	"ACADL(NM_001608.4):c.152G>T (p.(Arg51Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"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 ACADL
## Count = 6
"{{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}}"
"0000000839"	"00000031"	"90"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(Arg50*)"	"2"
"0000650414"	"00000031"	"30"	"722"	"0"	"722"	"0"	"c.722G>C"	"r.(?)"	"p.(Gly241Ala)"	""
"0000650415"	"00000031"	"30"	"113"	"0"	"113"	"0"	"c.113C>T"	"r.(?)"	"p.(Thr38Ile)"	""
"0000669596"	"00000031"	"30"	"113"	"0"	"113"	"0"	"c.113C>T"	"r.(?)"	"p.(Thr38Ile)"	""
"0001032923"	"00000031"	"50"	"501"	"0"	"501"	"0"	"c.501T>A"	"r.(?)"	"p.(=)"	""
"0001063763"	"00000031"	"50"	"152"	"0"	"152"	"0"	"c.152G>T"	"r.(?)"	"p.(Arg51Ile)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000000056"	"0000000839"
"0000293725"	"0000650414"
"0000293726"	"0000650415"
"0000305908"	"0000669596"