### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX3) # 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}}" "PEX3" "peroxisomal biogenesis factor 3" "6" "q24.2" "unknown" "NG_008459.1" "UD_132118969859" "" "https://www.LOVD.nl/PEX3" "" "1" "8858" "8504" "603164" "1" "1" "1" "1" " This database is one of the dbPEX gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PEX3_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
\r\n
" "-1" "" "-1" "00001" "2006-05-05 00:00:00" "00006" "2020-09-10 16:26:31" "00000" "2021-09-17 14:40:49" ## 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}}" "00015984" "PEX3" "peroxisomal biogenesis factor 3" "001" "NM_003630.2" "" "NP_003621.1" "" "" "" "-262" "2512" "1122" "143771918" "143811753" "" "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}}" "03774" "PBD-10A" "peroxisome biogenesis disorder, type 10A (PBD-10A)" "" "614882" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-09-25 13:23:54" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2020-09-04 17:15:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PEX3" "03774" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00309914" "" "" "" "1" "" "02015" "{PMID:Muntau 2000:10958759}, {PMID:Shimozawa 2000:10942428}, {PMID:South 2000:10871277}" "" "M" "yes" "Netherlands" "" "0" "" "" "" "PBDG-01/PBD400" "00309915" "" "" "" "1" "" "02015" "{PMID:Muntau 2000:10958759}, {PMID:Ghaedi 2000:10968777}" "" "M" "yes" "Italy" "" "0" "" "" "" "PBDG-02" "00309917" "" "" "" "1" "" "00006" "{PMID:South 2000:10871277}" "" "" "yes" "" "" "0" "" "" "" "PBD401" "00309918" "" "" "" "1" "" "00006" "{PMID:Dursun 2009:20033294}" "" "M" "" "Turkey" "00y00m03d" "0" "" "" "" "patient" "00309919" "" "" "" "1" "" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "patient" "00309920" "" "" "" "1" "" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "patient" "00309921" "" "" "" "1" "" "03775" "{PMID:Bjørgo 2017:28673549}" "2-generation family, 2 affected (F, M)" "" "" "Norway" "" "0" "" "" "Iraq" "FamPatIV1/2" "00309922" "" "" "" "1" "" "00006" "{PMID:Maxit 2017:27557811}" "" "M" "" "Argentina" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00309914" "05079" "00309915" "05079" "00309917" "05079" "00309918" "05079" "00309919" "05079" "00309920" "05079" "00309921" "05079" "00309922" "05079" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03774, 05079 ## Count = 8 "{{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}}" "0000235229" "05079" "00309914" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235230" "05079" "00309915" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235231" "05079" "00309917" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235232" "05079" "00309918" "00006" "Familial, autosomal recessive" "" "see aper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235233" "05079" "00309919" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235234" "05079" "00309920" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235235" "05079" "00309921" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235236" "05079" "00309922" "00006" "Familial, autosomal recessive" "09y" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000311061" "00309914" "1" "02015" "00006" "2006-10-23 19:04:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311062" "00309915" "1" "02015" "00006" "2006-05-05 10:02:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311064" "00309917" "1" "00006" "00006" "2020-09-06 17:18:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311065" "00309918" "1" "00006" "00006" "2020-09-06 17:22:30" "" "" "SEQ" "DNA" "" "" "0000311066" "00309919" "1" "00006" "00006" "2020-09-06 17:24:49" "" "" "SEQ" "DNA" "" "" "0000311067" "00309920" "1" "00006" "00006" "2020-09-06 17:28:03" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311068" "00309921" "1" "03775" "00006" "2016-03-11 14:29:47" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311069" "00309922" "1" "00006" "00006" "2020-09-06 17:48:51" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000311061" "PEX3" "0000311062" "PEX3" "0000311064" "PEX3" "0000311065" "PEX3" "0000311066" "PEX3" "0000311067" "PEX3" "0000311068" "PEX3" "0000311069" "PEX3" ## 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 = 16 "{{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}}" "0000249797" "0" "50" "6" "143780270" "143780270" "subst" "0.0000040618" "02325" "PEX3_000005" "g.143780270A>G" "" "" "" "PEX3(NM_003630.3):c.122A>G (p.Q41R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143459133A>G" "" "VUS" "" "0000296910" "0" "10" "6" "143784039" "143784039" "del" "0" "02325" "PEX3_000006" "g.143784039del" "" "" "" "PEX3(NM_003630.3):c.206-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143462902del" "" "benign" "" "0000296911" "0" "10" "6" "143792675" "143792675" "subst" "0.378719" "02325" "PEX3_000007" "g.143792675T>C" "" "" "" "PEX3(NM_003630.3):c.524-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143471538T>C" "" "benign" "" "0000527366" "0" "30" "6" "143792148" "143792148" "subst" "0.00000812506" "01804" "PEX3_000008" "g.143792148C>G" "" "" "" "PEX3(NM_003630.2):c.382C>G (p.(Leu128Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143471011C>G" "" "likely benign" "" "0000686239" "3" "90" "6" "143792713" "143792713" "dup" "0" "02015" "PEX3_000001" "g.143792713dup" "" "{PMID:Muntau 2000:10958759}, {PMID:Shimozawa 2000:10942428}, {PMID:South 2000:10871277}" "" "543_544insT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686240" "3" "90" "6" "143806281" "143806281" "subst" "0" "02015" "PEX3_000002" "g.143806281T>G" "" "{PMID:Muntau 2000:10958759}, {PMID:Ghaedi 2000:10968777}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686352" "3" "90" "6" "143780305" "143780305" "subst" "0.00000812315" "00006" "PEX3_000009" "g.143780305C>T" "" "{PMID:South 2000:10871277}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686353" "3" "90" "6" "143800250" "143800250" "subst" "0" "00006" "PEX3_000010" "g.143800250C>T" "" "{PMID:Dursun 2009:20033294}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686354" "3" "90" "6" "143789299" "143789302" "del" "0" "00006" "PEX3_000003" "g.143789299_143789302del" "" "{PMID:Ebberink 2011:21031596}" "" "328_331delATAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000686355" "3" "90" "6" "45937086" "45937279" "del" "0" "00006" "PEX3_000011" "g.45937086_45937279del" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686356" "3" "90" "6" "143784052" "143784052" "subst" "0" "03775" "PEX3_000004" "g.143784052G>T" "" "{PMID:Bjørgo 2017:28673549}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686357" "21" "90" "6" "143800292" "143800292" "subst" "0.0000122087" "00006" "PEX3_000012" "g.143800292C>T" "" "{PMID:Maxit 2017:27557811}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686358" "11" "90" "6" "143806338" "143806338" "subst" "0.00000813312" "00006" "PEX3_000013" "g.143806338G>A" "" "{PMID:Maxit 2017:27557811}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000720703" "0" "30" "6" "143784096" "143784096" "subst" "0.0000853201" "01943" "PEX3_000014" "g.143784096A>G" "" "" "" "PEX3(NM_003630.2):c.249A>G (p.Q83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720704" "0" "30" "6" "143792756" "143792756" "subst" "0.000960412" "01943" "PEX3_000015" "g.143792756A>G" "" "" "" "PEX3(NM_003630.2):c.578+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802340" "0" "30" "6" "143792114" "143792114" "subst" "" "01943" "PEX3_000016" "g.143792114T>C" "" "" "" "PEX3(NM_003630.2):c.348T>C (p.T116=)" "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 PEX3 ## Count = 16 "{{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}}" "0000249797" "00015984" "50" "122" "0" "122" "0" "c.122A>G" "r.(?)" "p.(Gln41Arg)" "" "0000296910" "00015984" "10" "206" "-14" "206" "-14" "c.206-14del" "r.(=)" "p.(=)" "" "0000296911" "00015984" "10" "524" "-19" "524" "-19" "c.524-19T>C" "r.(=)" "p.(=)" "" "0000527366" "00015984" "30" "382" "0" "382" "0" "c.382C>G" "r.(?)" "p.(Leu128Val)" "" "0000686239" "00015984" "90" "543" "0" "543" "0" "c.543dup" "r.(?)" "p.(Val182Cysfs*3)" "" "0000686240" "00015984" "90" "942" "-8" "942" "-8" "c.942-8T>G" "r.942_1038del" "p.Ser314fs" "" "0000686352" "00015984" "90" "157" "0" "157" "0" "c.157C>T" "r.157c>u" "p.Arg53*" "" "0000686353" "00015984" "90" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286*)" "" "0000686354" "00015984" "90" "328" "0" "331" "0" "c.328_331del" "r.(?)" "p.(Ile110Valfs*23)" "" "0000686355" "00015984" "90" "334" "0" "393" "0" "c.(334_393del)" "r.334_393del" "p.Phe102_Val131del" "" "0000686356" "00015984" "90" "206" "-1" "206" "-1" "c.206-1G>T" "r.[206_232del,206_287del,206_331del]" "p.[Val69_Arg77del,Val69Glyfs*6,Val69_Ser111delinsGly]" "" "0000686357" "00015984" "90" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Arg300*)" "" "0000686358" "00015984" "90" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Gly331Arg)" "" "0000720703" "00015984" "30" "249" "0" "249" "0" "c.249A>G" "r.(?)" "p.(Gln83=)" "" "0000720704" "00015984" "30" "578" "8" "578" "8" "c.578+8A>G" "r.(=)" "p.(=)" "" "0000802340" "00015984" "30" "348" "0" "348" "0" "c.348T>C" "r.(?)" "p.(Thr116=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000311061" "0000686239" "0000311062" "0000686240" "0000311064" "0000686352" "0000311065" "0000686353" "0000311066" "0000686354" "0000311067" "0000686355" "0000311068" "0000686356" "0000311069" "0000686357" "0000311069" "0000686358"