### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = QDPR) # 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}}" "QDPR" "quinoid dihydropteridine reductase" "4" "p15.31" "unknown" "NC_000004.11" "UD_132118333200" "" "" "" "1" "1" "9752" "5860" "612676" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 16:06:56" "" "" "" "" "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}}" "00002711" "QDPR" "quinoid dihydropteridine reductase" "001" "NM_000320.2" "" "NP_000311.2" "" "" "" "-180" "1473" "735" "17513857" "17488016" "00001" "2013-11-15 16:18:36" "" "" "" "4" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 5 "{{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}}" "0000000991" "0" "99" "4" "17493951" "17493951" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 08:39:32" "QDPR_000005" "g.17493951T>C" "" "{PMID:9744478:9744478}" "" "rs104893866" "subst" "0" ";" "5.260" "" "" "" "" "MSCV_0000991" "" "0000000992" "0" "99" "4" "17503456" "17503456" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 08:31:39" "QDPR_000001" "g.17503456A>C" "" "{PMID:8326489:8326489}" "" "rs104893864" "subst" "0" ";" "5.650" "" "" "" "" "MSCV_0000992" "" "0000000993" "0" "99" "4" "17506027" "17506027" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 08:39:15" "QDPR_000002" "g.17506027C>T" "" "{PMID:11153907:11153907}" "" "rs104893867" "subst" "0" ";" "5.500" "" "" "" "" "MSCV_0000993" "" "0000000994" "0" "99" "4" "17510986" "17510986" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 08:31:27" "QDPR_000003" "g.17510986A>G" "" "{PMID:9341885:9341885}" "" "rs104893865" "subst" "0" ";" "5.520" "" "" "" "" "MSCV_0000994" "" "0000000995" "0" "99" "4" "17513610" "17513610" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 08:32:05" "QDPR_000004" "g.17513610C>T" "" "{PMID:8326489:8326489}" "" "rs104893863" "subst" "0" ";" "4.010" "" "" "" "" "MSCV_0000995" "" ## 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 = 5 "{{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}}" "0000000991" "00002711" "55" "449" "0" "449" "0" "c.449A>G" "5/7" "p.(Tyr150Cys)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000992" "00002711" "55" "322" "0" "322" "0" "c.322T>G" "4/7" "p.(Trp108Gly)" "r.(?)" "benign(0.328)" "" "missense_variant" "" "" "tolerated(0.07)" "0000000993" "00002711" "55" "270" "0" "270" "0" "c.270G>A" "3/7" "p.(Trp90*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000994" "00002711" "55" "106" "0" "106" "0" "c.106T>C" "2/7" "p.(Trp36Arg)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant,splice_region_variant" "" "" "tolerated(0.24)" "0000000995" "00002711" "55" "68" "0" "68" "0" "c.68G>A" "1/7" "p.(Gly23Asp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0