### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ETFB)
# 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}}"
"ETFB"	"electron transfer flavoprotein subunit beta"	"19"	"q13.41"	"unknown"	"NC_000019.9"	"UD_144475614365"	""	""	""	"1"	"3482"	"2109"	"130410"	"0"	"0"	"0"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00006"	"2022-01-16 00:00:00"	"00006"	"2023-01-22 17:41:46"	"00006"	"2023-07-02 22:19:22"


## 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}}"
"00000144"	"ETFB"	"electron-transfer-flavoprotein, beta polypeptide, transcript variant 1"	"001"	"NM_001985.2"	""	"NP_001976.1"	""	""	""	"-92"	"824"	"768"	"51869672"	"51848409"	"00006"	"2022-01-16 10:22:32"	""	""


## 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}}"
"00016"	"MADD"	"Multiple acyl-CoA dehydrogenase deficiency"	""	"231680"	"liver"	""	""	"00006"	"2022-01-16 10:10:27"	""	""
"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}}"
"ETFB"	"00016"
"ETFB"	"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 00016, 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 = 2
"{{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}}"
"0000016484"	"0"	"55"	"19"	"51850177"	"51850177"	"subst"	""	"00006"	"ETFB_000001"	"g.51850177T>G"	"1/2"	""	"Substitution"	""	""
"0000016485"	"0"	"55"	"19"	"51848617"	"51848619"	"del"	""	"00006"	"ETFB_000002"	"g.51848617_51848619del"	"1/2"	""	"Deletion"	""	""


## 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 ETFB
## Count = 2
"{{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}}"
"0000016484"	"00000144"	"55"	"574"	"0"	"574"	"0"	"c.574T>G"	"5"	"Tyr192Asp"	"r.0?"
"0000016485"	"00000144"	"55"	"614"	"0"	"616"	"0"	"c.614_616del"	"6"	"Lys205del"	"r.0?"


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