### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HADHB)
# 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}}"
"HADHB"	"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta"	"2"	"p23.3"	"unknown"	"NC_000002.11"	"UD_144475984179"	""	""	""	"1"	"4803"	"3032"	"143450"	"0"	"0"	"0"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00006"	"2022-01-16 00:00:00"	"00006"	"2023-01-22 16:04:22"	"00006"	"2023-07-02 21:07:04"


## 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}}"
"00000142"	"HADHB"	"hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit, transcript variant 1"	"002"	"NM_000183.2"	""	"NP_000174.1"	""	""	""	"-251"	"1937"	"1425"	"26467616"	"26513333"	"00006"	"2022-01-16 09:53:18"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00015"	"TFPD"	"trifunctional protein deficiency"	""	"609015"	"skeletal muscle"	""	""	"00006"	"2022-01-16 09:51:01"	""	""
"00019"	"WD"	"wilson disease"	"AR"	"277900"	"brain"	"liver dysfunction, neurological features (like tremor,  parkinsonism, dystornia, etc.), Kayser-Fleischer rings, chondrocalcinosis and osteoarthritis..."	"low ceruloplasmin, Kayser-Fleischer rings, abnormalities of the basal ganglia..."	"00009"	"2023-08-21 15:46:32"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"HADHB"	"00015"
"HADHB"	"00019"


## 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 ##
## Note: Only showing Phenotype columns active for Diseases 00015, 00019
## 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 = 14
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Type}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/classclinical}}"
"0000016412"	"0"	"77"	"2"	"26486347"	"26486347"	"subst"	""	"00006"	"HADHB_000002"	"g.26486347C>G"	"1/22"	""	"Substitution"	""	""
"0000016413"	"0"	"55"	"2"	"26499993"	"26499993"	"subst"	""	"00006"	"HADHB_000005"	"g.26499993T>C"	"2/22"	""	"Substitution"	""	""
"0000016414"	"0"	"55"	"2"	"26500007"	"26500007"	"subst"	""	"00006"	"HADHB_000006"	"g.26500007G>A"	"1/22"	""	"Substitution"	""	""
"0000016415"	"0"	"55"	"2"	"26502111"	"26502111"	"subst"	""	"00006"	"HADHB_000012"	"g.26502111C>T"	"4/22"	""	"Substitution"	""	""
"0000016416"	"0"	"77"	"2"	"26507776"	"26507776"	"subst"	""	"00006"	"HADHB_000013"	"g.26507776C>T"	"5/22"	""	"Substitution"	""	""
"0000016417"	"0"	"55"	"2"	"26508444"	"26508444"	"subst"	""	"00006"	"HADHB_000014"	"g.26508444G>A"	"1/22"	""	"Substitution"	""	""
"0000016582"	"0"	"55"	"2"	"26502058"	"26502058"	"subst"	""	"00006"	"HADHB_000011"	"g.26502058G>A"	"1/22"	""	"Substitution"	""	""
"0000016583"	"0"	"55"	"2"	"26501559"	"26501559"	"subst"	""	"00006"	"HADHB_000010"	"g.26501559C>T"	"1/22"	""	"Substitution"	""	""
"0000016584"	"0"	"55"	"2"	"26501529"	"26501529"	"subst"	""	"00006"	"HADHB_000009"	"g.26501529G>A"	"1/22"	""	"Substitution"	""	""
"0000016585"	"0"	"55"	"2"	"26501527"	"26501527"	"subst"	""	"00006"	"HADHB_000008"	"g.26501527G>A"	"1/22"	""	"Substitution"	""	""
"0000016586"	"0"	"55"	"2"	"26500013"	"26500013"	"subst"	""	"00006"	"HADHB_000007"	"g.26500013C>G"	"1/22"	""	"Substitution"	""	""
"0000016587"	"0"	"55"	"2"	"26499978"	"26499978"	"subst"	""	"00006"	"HADHB_000004"	"g.26499978C>T"	"1/22"	""	"Substitution"	""	""
"0000016588"	"0"	"55"	"2"	"26496604"	"26496604"	"subst"	""	"00006"	"HADHB_000003"	"g.26496604A>G"	"1/22"	""	"Substitution"	""	""
"0000016589"	"0"	"99"	"2"	"26486322"	"26486322"	"subst"	""	"00006"	"HADHB_000001"	"g.26486322A>G"	"1/22"	""	"Substitution"	""	""


## 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 HADHB
## Count = 14
"{{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}}"
"0000016412"	"00000142"	"77"	"209"	"0"	"209"	"0"	"c.209C>G"	"4"	"Ser70*"	"r.0?"
"0000016413"	"00000142"	"55"	"407"	"0"	"407"	"0"	"c.407T>C"	"7"	"Met136Thr"	"r.0?"
"0000016414"	"00000142"	"55"	"421"	"0"	"421"	"0"	"c.421G>A"	"7"	"Ala141Thr"	"r.0?"
"0000016415"	"00000142"	"55"	"739"	"0"	"739"	"0"	"c.739C>T"	"9"	"Arg247Cys"	"r.0?"
"0000016416"	"00000142"	"77"	"1175"	"0"	"1175"	"0"	"c.1175C>T"	"14"	"Ala392Val"	"r.0?"
"0000016417"	"00000142"	"55"	"1389"	"5"	"1389"	"5"	"c.1389+5G>A"	"15i"	"-"	"r.0?"
"0000016582"	"00000142"	"55"	"686"	"0"	"686"	"0"	"c.686G>A"	"9"	"p.(Arg229Gln)"	"r.(?)"
"0000016583"	"00000142"	"55"	"520"	"0"	"520"	"0"	"c.520C>T"	"8"	"p.(Arg174Cys)"	"r.(?)"
"0000016584"	"00000142"	"55"	"490"	"0"	"490"	"0"	"c.490G>A"	"8"	"p.(Gly164Ser)"	"r.(?)"
"0000016585"	"00000142"	"55"	"488"	"0"	"488"	"0"	"c.488G>A"	"8"	"p.(Gly163Asp)"	"r.(?)"
"0000016586"	"00000142"	"55"	"427"	"0"	"427"	"0"	"c.427C>G"	"7"	"p.(Gln143Glu)"	"r.(?)"
"0000016587"	"00000142"	"55"	"392"	"0"	"392"	"0"	"c.392C>T"	"7"	"p.(Ala131Val)"	"r.(?)"
"0000016588"	"00000142"	"55"	"340"	"0"	"340"	"0"	"c.340A>G"	"6"	"p.(Asn114Asp)"	"r.(?)"
"0000016589"	"00000142"	"99"	"184"	"0"	"184"	"0"	"c.184A>G"	"4"	"p.(Thr62Ala)"	"r.(?)"


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