### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = UQCRFS1)
# 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}}"
"UQCRFS1"	"ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1"	"19"	"q12"	"unknown"	"NC_000019.9"	"UD_132378764154"	""	"https://www.LOVD.nl/UQCRFS1"	""	"1"	"12587"	"7386"	"191327"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/UQCRFS1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2020-01-08 18:27:07"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00022423"	"UQCRFS1"	"ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1"	"001"	"NM_006003.2"	""	"NP_005994.2"	""	""	""	"-111"	"1113"	"825"	"29704136"	"29698167"	""	"0000-00-00 00:00:00"	""	""


## 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}}"
"05452"	"MC3DN"	"mitochondrial complex III deficiency, nuclear (MC3DN)]"	""	""	""	""	""	"00006"	"2018-07-09 13:34:27"	""	""
"06447"	"MC3DN10"	"Mi complex III deficiency, nuclear type 10"	"AR"	"618775"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"UQCRFS1"	"05452"
"UQCRFS1"	"06447"


## 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}}"
"00275559"	""	""	""	"1"	""	"00006"	"{PMID:Gusic 2020:31883641}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Afghanistan"	"00y03m15d"	"0"	""	""	""	"Fam1Pat1"
"00275560"	""	""	""	"1"	""	"00006"	"{PMID:Gusic 2020:31883641}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"no"	"Germany"	""	"0"	""	""	""	"Fam2Pat2"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00275559"	"05452"
"00275560"	"05452"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05452, 06447
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000210175"	"05452"	"00275559"	"00006"	"Familial, autosomal recessive"	"00y03m15d"	"no intrauterine growth retardation (below P10) (HP:0001511); no low birth weight (HP:0001518); fetal bradycardia (HP:0001662); hypothermia (HP:0002045); feeding difficulties (HP:0008872); hyperventilation (HP:0002883); lactic acidosis (HP:0003128) 24 mmol/l; hypertrophic cardiomyopathy (HP:0001639); no ventricular septal defect (HP:0001629); no persistent left superior vena cava (HP:0005301); pericardial effusion (HP:0001698); muscular hypotonia (HP:0001252); muscular weakness (HP:0001324); elevated creatine kinase levels (HP:0003236) (>5,000 U/l); thrombocytopenia (HP:0001873); abnormality of blood coagulation (HP:0001928); alopecia totalis (HP:0007418); cholelithiasis (HP:0001081)"	""	""	""	""	""	""	""	"MD3DNx"	"mitochondrial complex III deficiency"
"0000210176"	"05452"	"00275560"	"00006"	"Familial, autosomal recessive"	"09y"	"intrauterine growth retardation (<P10) (HP:0001511); low birth weight (HP:0001518); fetal bradycardia (HP:0001662); persistent fetal circulation (HP:0011726); feeding difficulties (HP:0008872); lactic acidosis (HP:0003128) 15 mmol/l; metabolic crises during febrile infections (HP:0004897); hypertrophic cardiomyopathy (HP:0001639); ventricular septal defect (HP:0001629); persistent left superior vena cava (HP:0005301); muscular hypotonia (HP:0001252); muscular weakness (HP:0001324); delayed motor development (HP:0001270); thrombocytopenia (HP:0001873); normochromic anemia (HP:0001895); bilateral papilledema (HP:0001085); alopecia totalis (HP:0007418)"	""	""	""	""	""	""	""	"MD3DNx"	"mitochondrial complex III deficiency"


## 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}}"
"0000276718"	"00275559"	"1"	"00006"	"00006"	"2020-01-08 18:10:00"	"00006"	"2020-01-08 18:34:33"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000276719"	"00275560"	"1"	"00006"	"00006"	"2020-01-08 18:10:00"	"00006"	"2020-01-08 18:34:02"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000276718"	"UQCRFS1"
"0000276719"	"UQCRFS1"


## 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 = 8
"{{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}}"
"0000566786"	"0"	"50"	"19"	"29699003"	"29699003"	"subst"	"2.03358E-5"	"01943"	"UQCRFS1_000001"	"g.29699003G>A"	""	""	""	"UQCRFS1(NM_006003.3):c.277C>T (p.R93C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.29208096G>A"	""	"VUS"	""
"0000630848"	"21"	"90"	"19"	"29703985"	"29703985"	"subst"	"0"	"00006"	"UQCRFS1_000003"	"g.29703985A>T"	""	"{PMID:Gusic 2020:31883641}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.29213078A>T"	""	"pathogenic (recessive)"	""
"0000630849"	"3"	"90"	"19"	"29699066"	"29699066"	"subst"	"0"	"00006"	"UQCRFS1_000002"	"g.29699066C>G"	""	"{PMID:Gusic 2020:31883641}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.29208159C>G"	""	"pathogenic (recessive)"	""
"0000630850"	"11"	"90"	"19"	"29698670"	"29698670"	"subst"	"0"	"00006"	"UQCRFS1_000004"	"g.29698670G>A"	""	"{PMID:Gusic 2020:31883641}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.29207763G>A"	""	"pathogenic (recessive)"	""
"0000808805"	"0"	"70"	"19"	"29698552"	"29698552"	"subst"	"4.06636E-6"	"02327"	"UQCRFS1_000005"	"g.29698552T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000808806"	"0"	"70"	"19"	"29698811"	"29698811"	"subst"	"0"	"02327"	"UQCRFS1_000006"	"g.29698811A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001004588"	"0"	"30"	"19"	"29703901"	"29703901"	"subst"	"0"	"01804"	"UQCRFS1_000008"	"g.29703901A>T"	""	""	""	"UQCRFS1(NM_006003.2):c.125T>A (p.(Val42Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001056591"	"0"	"50"	"19"	"29699006"	"29699006"	"subst"	"0.000500338"	"01804"	"UQCRFS1_000009"	"g.29699006G>A"	""	""	""	"UQCRFS1(NM_006003.3):c.274C>T (p.(Arg92Cys))"	"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 UQCRFS1
## Count = 8
"{{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}}"
"0000566786"	"00022423"	"50"	"277"	"0"	"277"	"0"	"c.277C>T"	"r.(?)"	"p.(Arg93Cys)"	""
"0000630848"	"00022423"	"90"	"41"	"0"	"41"	"0"	"c.41T>A"	"r.(?)"	"p.(Val14Asp)"	""
"0000630849"	"00022423"	"90"	"215"	"-1"	"215"	"-1"	"c.215-1G>C"	"r.215_244del"	"p.Val72_Thr81del"	""
"0000630850"	"00022423"	"90"	"610"	"0"	"610"	"0"	"c.610C>T"	"r.610c>u"	"p.Arg204*"	""
"0000808805"	"00022423"	"70"	"728"	"0"	"728"	"0"	"c.728A>G"	"r.(?)"	"p.(Tyr243Cys)"	""
"0000808806"	"00022423"	"70"	"469"	"0"	"469"	"0"	"c.469T>C"	"r.(?)"	"p.(Ser157Pro)"	""
"0001004588"	"00022423"	"30"	"125"	"0"	"125"	"0"	"c.125T>A"	"r.(?)"	"p.(Val42Glu)"	""
"0001056591"	"00022423"	"50"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000276718"	"0000630849"
"0000276719"	"0000630848"
"0000276719"	"0000630850"