### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UQCRB) # 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}}" "UQCRB" "ubiquinol-cytochrome c reductase binding protein" "8" "q22" "unknown" "NG_008237.1" "UD_134408252051" "" "https://www.LOVD.nl/UQCRB" "" "1" "12582" "7381" "191330" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/UQCRB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-08 09:52:52" "00000" "2021-02-08 18:36:18" ## 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}}" "00022419" "UQCRB" "transcript variant 1" "001" "NM_006294.4" "" "NP_006285.1" "" "" "" "-104" "4715" "336" "97247862" "97238904" "" "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" "03843" "MC3DN3" "mitochondrial complex III deficiency, nuclear type 3 (MC3DN-3)" "AR" "615158" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05452" "MC3DN" "mitochondrial complex III deficiency, nuclear (MC3DN)]" "" "" "" "" "" "00006" "2018-07-09 13:34:27" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "UQCRB" "03843" "UQCRB" "05452" ## 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}}" "00143813" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00294686" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00143813" "00198" "00294686" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03843, 05452 ## Count = 1 "{{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}}" "0000116590" "00198" "00143813" "01807" "Unknown" "" "Lactic acidosis (HP:0003128); Hypoglycemia (HP:0001943); Brain atrophy (HP:0012444); Mitochondrial encephalopathy (HP:0006789)" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000144672" "00143813" "0" "01807" "01807" "2017-12-07 14:19:35" "" "" "SEQ" "DNA" "" "" "0000295854" "00294686" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## 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 = 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}}" "0000235498" "3" "70" "8" "97243309" "97243309" "subst" "0" "01807" "UQCRB_000001" "g.97243309C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.96231081C>A" "" "likely pathogenic" "" "0000535528" "0" "50" "8" "97243295" "97243295" "subst" "0" "01804" "UQCRB_000002" "g.97243295C>A" "" "" "" "UQCRB(NM_001199975.2):c.228G>T (p.(Trp76Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96231067C>A" "" "VUS" "" "0000535529" "0" "30" "8" "97243600" "97243600" "subst" "0.00189707" "01804" "UQCRB_000003" "g.97243600C>T" "" "" "" "UQCRB(NM_001254752.1):c.395+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96231372C>T" "" "likely benign" "" "0000535530" "0" "30" "8" "97243734" "97243734" "subst" "0.00155395" "01804" "UQCRB_000004" "g.97243734C>T" "" "" "" "UQCRB(NM_001254752.1):c.268G>A (p.(Val90Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96231506C>T" "" "likely benign" "" "0000652543" "1" "50" "8" "97244060" "97244060" "subst" "0.00128758" "03575" "UQCRB_000005" "g.97244060A>T" "23/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous, no homozygous; {DB:CLININrs139283183}" "Germline" "" "rs139283183" "0" "" "" "g.96231832A>T" "" "VUS" "" "0000690331" "0" "30" "8" "97243363" "97243363" "subst" "3.26187E-5" "01943" "UQCRB_000006" "g.97243363A>G" "" "" "" "UQCRB(NM_001254752.1):c.396-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722120" "0" "30" "8" "97243995" "97243995" "subst" "0.000105652" "01943" "UQCRB_000007" "g.97243995G>A" "" "" "" "UQCRB(NM_001254752.1):c.258+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722121" "0" "30" "8" "97244148" "97244148" "subst" "1.22081E-5" "01943" "UQCRB_000008" "g.97244148T>C" "" "" "" "UQCRB(NM_001254752.1):c.112A>G (p.I38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 UQCRB ## 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}}" "0000235498" "00022419" "70" "310" "0" "310" "0" "c.310G>T" "r.(?)" "p.(Glu104*)" "4" "0000535528" "00022419" "50" "324" "0" "324" "0" "c.324G>T" "r.(?)" "p.(Trp108Cys)" "" "0000535529" "00022419" "30" "259" "-240" "259" "-240" "c.259-240G>A" "r.(=)" "p.(=)" "" "0000535530" "00022419" "30" "258" "268" "258" "268" "c.258+268G>A" "r.(=)" "p.(=)" "" "0000652543" "00022419" "50" "200" "0" "200" "0" "c.200T>A" "r.(?)" "p.(Leu67Gln)" "" "0000690331" "00022419" "30" "259" "-3" "259" "-3" "c.259-3T>C" "r.spl?" "p.?" "" "0000722120" "00022419" "30" "258" "7" "258" "7" "c.258+7C>T" "r.(=)" "p.(=)" "" "0000722121" "00022419" "30" "112" "0" "112" "0" "c.112A>G" "r.(?)" "p.(Ile38Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000144672" "0000235498" "0000295854" "0000652543"