### LOVD-version 3000-210 ### 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "UQCRB" "ubiquinol-cytochrome c reductase binding protein" "8" "q22" "unknown" "NC_000008.10" "UD_134408252051" "" "" "" "1" "1" "12582" "7381" "191330" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "{{iNote}}" "{{chrom}}" "00000357" "UQCRB" "transcript variant 1" "001" "NM_006294.4" "" "NP_006285.1" "" "" "" "-104" "4715" "336" "97247862" "97238904" "00001" "2013-11-07 14:01:53" "" "" "" "8" "00000358" "UQCRB" "transcript variant 3" "002" "NM_001254752.1" "" "NP_001241681.1" "" "" "" "-104" "4852" "423" "97247862" "97238904" "00001" "2013-11-07 14:01:53" "" "" "" "8" "00000359" "UQCRB" "transcript variant 4" "003" "NR_045639.1" "" "" "" "" "" "1" "5109" "5109" "97247862" "97238904" "00001" "2013-11-07 14:01:53" "" "" "" "8" "00000360" "UQCRB" "transcript variant 2" "004" "NM_001199975.2" "" "NP_001186904.1" "" "" "" "-314" "4619" "240" "97247862" "97238904" "00001" "2013-11-07 14:01:53" "" "" "" "8" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00017" "MC3DN1" "Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)" "124000" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00019" "MC3DN3" "Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)" "615158" "" "" "" "00001" "2013-11-12 14:00:00" "00001" "2019-06-17 13:21:17" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "UQCRB" "00017" "UQCRB" "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 ## ## 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 = 1 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000022450" "0" "99" "8" "97243310" "97243313" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-06 09:33:02" "UQCRB_000001" "g.97243310_97243313del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022450" "" ## 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. ## Count = 4 "{{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}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000022450" "00000357" "00" "306" "0" "309" "0" "c.306_309del" "" "p.(Arg105Lysfs*22)" "r.(?)" "" "" "" "" "" "-" "0000022450" "00000358" "00" "443" "0" "446" "0" "c.*20_*23del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022450" "00000359" "00" "700" "0" "703" "0" "n.700_703del" "" "" "" "" "" "" "" "" "-" "0000022450" "00000360" "00" "210" "0" "213" "0" "c.210_213del" "" "p.(Arg73Lysfs*22)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0