### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UQCRQ) # 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}}" "UQCRQ" "ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa" "5" "q31.1" "unknown" "NC_000005.9" "UD_132119018529" "" "" "" "1" "1" "29594" "27089" "612080" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; 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 = 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}}" "{{iNote}}" "{{chrom}}" "00000361" "UQCRQ" "ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa" "001" "NM_014402.4" "" "NP_055217.2" "" "" "" "-74" "1511" "249" "132202319" "132204536" "00001" "2013-11-07 14:01:58" "" "" "" "5" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00020" "MC3DN4" "Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)" "615159" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UQCRQ" "00020" ## 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 = 31 "{{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}}" "0000001159" "0" "99" "5" "132202707" "132202707" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 02:18:34" "UQCRQ_000001" "g.132202707C>T" "" "{PMID:18439546:18439546}" "" "rs11544803" "subst" "0" "; clinVar; Ensembl;" "2.170" "" "" "" "" "MSCV_0001159" "" "0000021566" "0" "00" "5" "132202361" "132202361" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:26:27" "UQCRQ_000029" "g.132202361del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021566" "" "0000021567" "0" "55" "5" "132202375" "132202375" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:19:05" "UQCRQ_000026" "g.132202375G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021567" "" "0000021568" "0" "55" "5" "132202618" "132202618" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:26:43" "UQCRQ_000002" "g.132202618C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021568" "" "0000021569" "0" "77" "5" "132202681" "132202681" "subst" "51" "0.00622789" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-02 09:07:03" "UQCRQ_000003" "g.132202681C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021569" "" "0000021570" "0" "99" "5" "132202707" "132202707" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:58" "UQCRQ_000001" "g.132202707C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001159" "" "0000021571" "0" "77" "5" "132203292" "132203292" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:26:23" "UQCRQ_000004" "g.132203292C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021571" "" "0000021572" "0" "55" "5" "132203293" "132203293" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:51" "UQCRQ_000005" "g.132203293G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021572" "" "0000021573" "0" "55" "5" "132203510" "132203510" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:19:17" "UQCRQ_000006" "g.132203510C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021573" "" "0000021574" "0" "55" "5" "132203510" "132203510" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:40" "UQCRQ_000007" "g.132203510C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021574" "" "0000021575" "0" "55" "5" "132203523" "132203523" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:17" "UQCRQ_000008" "g.132203523A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021575" "" "0000021576" "0" "55" "5" "132203606" "132203606" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:19:09" "UQCRQ_000009" "g.132203606G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021576" "" "0000021577" "0" "33" "5" "132203608" "132203608" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:26:46" "UQCRQ_000010" "g.132203608C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021577" "" "0000021578" "0" "55" "5" "132203638" "132203638" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:47" "UQCRQ_000011" "g.132203638C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021578" "" "0000021579" "0" "55" "5" "132203819" "132203819" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:26:33" "UQCRQ_000012" "g.132203819A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021579" "" "0000021580" "0" "33" "5" "132203918" "132203918" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:20" "UQCRQ_000013" "g.132203918C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021580" "" "0000021581" "0" "55" "5" "132203932" "132203932" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:19:02" "UQCRQ_000014" "g.132203932A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021581" "" "0000021582" "0" "33" "5" "132203952" "132203952" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:26:49" "UQCRQ_000015" "g.132203952G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021582" "" "0000021583" "0" "33" "5" "132203997" "132203997" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:07" "UQCRQ_000016" "g.132203997A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021583" "" "0000021584" "0" "55" "5" "132204030" "132204030" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:54" "UQCRQ_000017" "g.132204030C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021584" "" "0000021585" "0" "33" "5" "132204031" "132204031" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:44" "UQCRQ_000018" "g.132204031G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021585" "" "0000021586" "0" "55" "5" "132204244" "132204244" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-22 20:40:39" "UQCRQ_000019" "g.132204244A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021586" "" "0000021587" "0" "55" "5" "132204245" "132204245" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:13" "UQCRQ_000020" "g.132204245C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021587" "" "0000021588" "0" "55" "5" "132204253" "132204253" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:10" "UQCRQ_000021" "g.132204253G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021588" "" "0000021589" "0" "55" "5" "132204300" "132204300" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:19:13" "UQCRQ_000022" "g.132204300C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021589" "" "0000021590" "0" "55" "5" "132204332" "132204332" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:24" "UQCRQ_000023" "g.132204332A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021590" "" "0000021591" "0" "55" "5" "132204352" "132204352" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:37" "UQCRQ_000024" "g.132204352T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021591" "" "0000021592" "0" "55" "5" "132204360" "132204360" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:26:37" "UQCRQ_000025" "g.132204360A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021592" "" "0000021593" "0" "33" "5" "132204448" "132204448" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:18:30" "UQCRQ_000027" "g.132204448del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021593" "" "0000021594" "0" "55" "5" "132204478" "132204478" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 02:26:30" "UQCRQ_000028" "g.132204478G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021594" "" "0000026398" "0" "00" "5" "132202583" "132202583" "subst" "35" "0.00146086" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:00:47" "UQCRQ_000030" "g.132202583G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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 = 31 "{{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}}" "0000001159" "00000361" "99" "134" "0" "134" "0" "c.134C>T" "2/3" "p.(Ser45Phe)" "r.(?)" "possibly_damaging(0.866)" "" "missense_variant" "" "" "deleterious(0.01)" "0000021566" "00000361" "00" "-32" "0" "-32" "0" "c.-32del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021567" "00000361" "00" "-18" "0" "-18" "0" "c.-18G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021568" "00000361" "00" "45" "0" "45" "0" "c.45C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021569" "00000361" "00" "108" "0" "108" "0" "c.108C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021570" "00000361" "00" "134" "0" "134" "0" "c.134C>T" "" "p.(Ser45Phe)" "r.(?)" "" "" "" "" "" "-" "0000021571" "00000361" "00" "267" "0" "267" "0" "c.*18C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021572" "00000361" "00" "268" "0" "268" "0" "c.*19G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021573" "00000361" "00" "485" "0" "485" "0" "c.*236C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021574" "00000361" "00" "485" "0" "485" "0" "c.*236C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021575" "00000361" "00" "498" "0" "498" "0" "c.*249A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021576" "00000361" "00" "581" "0" "581" "0" "c.*332G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021577" "00000361" "00" "583" "0" "583" "0" "c.*334C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021578" "00000361" "00" "613" "0" "613" "0" "c.*364C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021579" "00000361" "00" "794" "0" "794" "0" "c.*545A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021580" "00000361" "00" "893" "0" "893" "0" "c.*644C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021581" "00000361" "00" "907" "0" "907" "0" "c.*658A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021582" "00000361" "00" "927" "0" "927" "0" "c.*678G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021583" "00000361" "00" "972" "0" "972" "0" "c.*723A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021584" "00000361" "00" "1005" "0" "1005" "0" "c.*756C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021585" "00000361" "00" "1006" "0" "1006" "0" "c.*757G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021586" "00000361" "00" "1219" "0" "1219" "0" "c.*970A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021587" "00000361" "00" "1220" "0" "1220" "0" "c.*971C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021588" "00000361" "00" "1228" "0" "1228" "0" "c.*979G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021589" "00000361" "00" "1275" "0" "1275" "0" "c.*1026C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021590" "00000361" "00" "1307" "0" "1307" "0" "c.*1058A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021591" "00000361" "00" "1327" "0" "1327" "0" "c.*1078T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021592" "00000361" "00" "1335" "0" "1335" "0" "c.*1086A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021593" "00000361" "00" "1423" "0" "1423" "0" "c.*1174del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021594" "00000361" "00" "1453" "0" "1453" "0" "c.*1204G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026398" "00000361" "00" "10" "0" "10" "0" "c.10G>A" "" "p.(Glu4Lys)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0