### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ETFA)
# 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}}"
"ETFA"	"electron transfer flavoprotein subunit alpha"	"15"	"q24.2-q24.3"	"unknown"	"NC_000015.9"	"UD_144475614163"	""	""	""	"1"	"3481"	"2108"	"608053"	"0"	"0"	"0"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00006"	"2022-01-16 00:00:00"	"00006"	"2023-01-22 17:38:37"	"00006"	"2023-07-02 22:21:02"


## 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}}"
"00000145"	"ETFA"	"electron-transfer-flavoprotein, alpha polypeptide, transcript variant 1"	"002"	"NM_000126.3"	""	"NP_000117.1"	""	""	""	"-81"	"1274"	"1002"	"76603810"	"76508628"	"00006"	"2022-01-16 10:27:07"	""	""


## 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}}"
"ETFA"	"00016"
"ETFA"	"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 = 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/Type}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/classclinical}}"
"0000016486"	"0"	"55"	"15"	"76580273"	"76580273"	"subst"	""	"00006"	"ETFA_000001"	"g.76580273G>A"	"3/8"	""	"Substitution"	""	""
"0000016487"	"0"	"55"	"15"	"76578780"	"76578780"	"subst"	""	"00006"	"ETFA_000002"	"g.76578780T>C"	"1/8"	""	"Substitution"	""	""
"0000016488"	"0"	"55"	"15"	"76578772"	"76578772"	"subst"	""	"00006"	"ETFA_000003"	"g.76578772G>T"	"1/8"	""	"Substitution"	""	""
"0000016489"	"0"	"77"	"15"	"76576164"	"76576164"	"subst"	""	"00006"	"ETFA_000004"	"g.76576164C>T"	"1/8"	""	"Substitution"	""	""
"0000016490"	"0"	"55"	"15"	"76566832"	"76566832"	"subst"	""	"00006"	"ETFA_000005"	"g.76566832G>T"	"1/8"	""	"Substitution"	""	""
"0000016491"	"0"	"55"	"15"	"76566783"	"76566783"	"subst"	""	"00006"	"ETFA_000006"	"g.76566783A>G"	"1/8"	""	"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 ETFA
## Count = 6
"{{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}}"
"0000016486"	"00000145"	"55"	"365"	"0"	"365"	"0"	"c.365G>A"	"5"	"Arg122Lys"	"r.0?"
"0000016487"	"00000145"	"55"	"494"	"0"	"494"	"0"	"c.494T>C"	"6"	"Val165Ala"	"r.0?"
"0000016488"	"00000145"	"55"	"502"	"0"	"502"	"0"	"c.502G>T"	"6"	"Val168Phe"	"r.0?"
"0000016489"	"00000145"	"77"	"667"	"0"	"667"	"0"	"c.667C>T"	"8"	"Arg223*"	"r.0?"
"0000016490"	"00000145"	"55"	"737"	"0"	"737"	"0"	"c.737G>T"	"9"	"Gly246Val"	"r.0?"
"0000016491"	"00000145"	"55"	"785"	"0"	"785"	"0"	"c.785A>G"	"9"	"Gln262Arg"	"r.0?"


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