### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ABCD3)
# 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}}"
"ABCD3"	"ATP-binding cassette, sub-family D (ALD), member 3"	"1"	"p21.3"	"unknown"	"NG_008865.1"	"UD_132118791717"	""	"http://www.LOVD.nl/ABCD3"	""	"1"	"67"	"5825"	"170995"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/ABCD3_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2014-12-23 22:51:33"	"00000"	"2024-02-26 20:06:56"


## 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}}"
"00001884"	"ABCD3"	"transcript variant 1"	"001"	"NM_002858.3"	""	"NP_002849.1"	""	""	""	"-102"	"3514"	"1980"	"94883933"	"94984219"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{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"
"04166"	"-"	"hepatosplenomegaly"	""	""	""	""	""	"00006"	"2014-12-23 22:55:49"	""	""
"04343"	"CBAS5"	"bile acid synthesis defect?, congenital, type 5 (CBAS-5)"	"AR"	"616278"	""	""	""	"00000"	"2015-09-23 10:25:22"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"ABCD3"	"04166"
"ABCD3"	"04343"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00027178"	""	""	""	"1"	""	"00006"	"{PMID:Ferdinandusse 2014:25168382}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Turkey"	"04y"	"0"	""	""	""	""
"00050695"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00027178"	"04166"
"00050695"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 04166, 04343
## Count = 2
"{{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}}"
"0000023249"	"04166"	"00027178"	"00006"	"Isolated (sporadic)"	""	"see paper; jaundice, hepatosplenomegaly, severe liver disease, striking accumulation of peroxisomal C27-bile acid intermediates in plasma; skin fibroblasts reduced number of enlarged import-competent peroxisomes; died 5 d after liver transplantation"	""	""	""	""	""	""	""	""	""	""	""
"0000037307"	"00198"	"00050695"	"00006"	"Isolated (sporadic)"	""	"global developmental delay, generalized hypotonia, polyphagia, abnormal facial shape, astigmatism, constipation"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000027182"	"00027178"	"1"	"00006"	"00006"	"2014-12-23 23:00:59"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000050640"	"00050695"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000027182"	"ABCD3"


## 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 = 3
"{{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}}"
"0000050320"	"3"	"90"	"1"	"94982035"	"94983793"	"del"	"0"	"00006"	"ABCD3_000001"	"g.94982035_94983793del"	""	"{PMID:Ferdinandusse 2014:25168382}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.94516479_94518237del"	""	"pathogenic"	""
"0000079620"	"0"	"90"	"1"	"93811483"	"98850435"	"del"	"0"	"00006"	"DPYD_000017"	"g.93811483_98850435del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000961222"	"0"	"50"	"1"	"94941244"	"94941244"	"subst"	"2.44141E-5"	"02327"	"ABCD3_000004"	"g.94941244T>C"	""	""	""	""	"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 ABCD3
## Count = 3
"{{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}}"
"0000050320"	"00001884"	"90"	"1903"	"-573"	"3088"	"0"	"c.1903-573_*1108del"	"r.903_*1246del"	"p.?"	"22i"
"0000079620"	"00001884"	"00"	"-1072552"	"0"	"3869730"	"0"	"c.-1072552_*3867750del"	"r.?"	"p.?"	""
"0000961222"	"00001884"	"50"	"578"	"0"	"578"	"0"	"c.578T>C"	"r.(?)"	"p.(Val193Ala)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000027182"	"0000050320"
"0000050640"	"0000079620"