### LOVD-version 3000-250 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX19) # 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}}" "{{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}}" "PEX19" "peroxisomal biogenesis factor 19" "1" "q22" "unknown" "NG_008637.1" "UD_132118545654" "" "https://www.LOVD.nl/PEX19" "" "1" "9713" "5824" "600279" "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/PEX19_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
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" "-1" "" "-1" "00001" "2006-05-05 00:00:00" "00006" "2020-09-10 16:14:42" "00000" "2020-09-15 15:50:26" ## 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}}" "00015997" "PEX19" "transcript variant 1" "004" "NM_002857.3" "" "NP_002848.1" "" "" "" "-27" "3642" "900" "160254941" "160246599" "" "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}}" "03777" "PBD12A" "peroxisome biogenesis disorder, type 12A (PBD12A)" "AR" "614886" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-09 15:54:55" "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}}" "PEX19" "03777" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00309875" "" "" "" "1" "02015" "{PMID:Mohamed 2010:20683989}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "patient" "00309876" "" "" "" "1" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "patient" "00309877" "" "" "" "1" "02015" "{PMID:Matsuzono 1999:10051604}" "" "" "" "Japan" "" "0" "" "" "" "PBDJ-01" "00309879" "" "" "" "1" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00309875" "05079" "00309876" "05079" "00309877" "05079" "00309879" "05079" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03777, 05079 ## Count = 4 "{{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}}" "0000235194" "05079" "00309875" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "PBD12A" "peroxisome biogenesis disorder" "0000235195" "05079" "00309876" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "PBD12A" "Zellweger syndrome" "0000235196" "05079" "00309879" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "PBD12A" "Zellweger syndrome" "0000235197" "05079" "00309877" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "PBD12A" "Zellweger syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000311020" "00309875" "1" "02015" "02015" "2010-08-16 11:39:00" "02015" "2010-08-17 11:43:14" "SEQ" "DNA" "" "" "0000311021" "00309876" "1" "03774" "02015" "2012-05-07 13:11:02" "" "" "SEQ" "DNA" "" "" "0000311022" "00309877" "1" "02015" "02015" "2006-05-05 10:23:00" "02015" "2007-10-15 19:26:00" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311023" "00309879" "1" "00006" "00006" "2020-09-04 16:56:42" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000311020" "PEX19" "0000311021" "PEX19" "0000311022" "PEX19" "0000311023" "PEX19" ## 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 = 17 "{{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}}" "0000274324" "0" "50" "1" "160264338" "160264338" "subst" "0" "01943" "COPA_000002" "g.160264338C>A" "" "" "" "COPA(NM_001098398.2):c.2639G>T (p.G880V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160294548C>A" "" "VUS" "" "0000274326" "0" "50" "1" "160261984" "160261984" "subst" "0" "01943" "COPA_000001" "g.160261984C>T" "" "" "" "COPA(NM_001098398.2):c.2992G>A (p.D998N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160292194C>T" "" "VUS" "" "0000305485" "0" "30" "1" "160252904" "160252904" "subst" "0.0012302" "01943" "PEX19_000004" "g.160252904G>A" "" "" "" "PEX19(NM_002857.3):c.181-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160283114G>A" "" "likely benign" "" "0000503949" "0" "90" "1" "160252205" "160252205" "subst" "0" "02330" "COPA_000010" "g.160252205A>G" "" "" "" "PEX19(NM_002857.3):c.432+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160282415A>G" "" "pathogenic" "" "0000503950" "0" "30" "1" "160252904" "160252904" "subst" "0.0012302" "02330" "PEX19_000004" "g.160252904G>A" "" "" "" "PEX19(NM_002857.3):c.181-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160283114G>A" "" "likely benign" "" "0000503951" "0" "30" "1" "160260267" "160260267" "subst" "0" "02326" "COPA_000011" "g.160260267G>T" "" "" "" "COPA(NM_001098398.1):c.3642+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160290477G>T" "" "likely benign" "" "0000503952" "0" "30" "1" "160261786" "160261786" "subst" "0" "02326" "COPA_000012" "g.160261786G>A" "" "" "" "COPA(NM_001098398.1):c.3174+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160291996G>A" "" "likely benign" "" "0000503953" "0" "30" "1" "160262330" "160262330" "subst" "0.000768876" "01943" "COPA_000013" "g.160262330T>G" "" "" "" "COPA(NM_001098398.2):c.2931A>C (p.T977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160292540T>G" "" "likely benign" "" "0000503954" "0" "30" "1" "160264280" "160264280" "subst" "0" "01943" "COPA_000014" "g.160264280A>C" "" "" "" "COPA(NM_001098398.2):c.2697T>G (p.P899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160294490A>C" "" "likely benign" "" "0000503955" "0" "50" "1" "160264593" "160264593" "subst" "0.000845763" "01943" "COPA_000015" "g.160264593C>T" "" "" "" "COPA(NM_001098398.2):c.2558G>A (p.G853D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160294803C>T" "" "VUS" "" "0000503956" "0" "30" "1" "160264615" "160264615" "subst" "0" "01943" "COPA_000016" "g.160264615T>A" "" "" "" "COPA(NM_001098398.2):c.2536A>T (p.I846F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160294825T>A" "" "likely benign" "" "0000604938" "0" "50" "1" "160265582" "160265582" "subst" "0.000461326" "01943" "COPA_000028" "g.160265582T>G" "" "" "" "COPA(NM_001098398.2):c.2447A>C (p.N816T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160295792T>G" "" "VUS" "" "0000686189" "3" "90" "1" "160252760" "160252760" "del" "0" "02015" "PEX19_000002" "g.160252760del" "" "{PMID:Mohamed 2010:20683989}" "" "320delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686190" "3" "90" "1" "160252760" "160252760" "del" "0" "03774" "PEX19_000003" "g.160252760del" "" "{PMID:Ebberink 2011:21031596}" "" "320delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686191" "3" "90" "1" "160249868" "160249868" "dup" "0" "02015" "PEX19_000001" "g.160249868dup" "" "{PMID:Matsuzono 1999:10051604}" "" "764insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686192" "3" "90" "1" "160249862" "160249862" "subst" "0" "00006" "PEX19_000005" "g.160249862G>A" "" "{PMID:Ebberink 2011:21031596}" "" "739C>T (Q257X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687915" "0" "30" "1" "160260464" "160260464" "subst" "0" "01943" "COPA_000043" "g.160260464G>A" "" "" "" "COPA(NM_001098398.2):c.3460C>T (p.L1154=)" "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 PEX19 ## Count = 17 "{{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}}" "0000274324" "00015997" "50" "-9424" "0" "-9424" "0" "c.-9424G>T" "r.(?)" "p.(=)" "" "0000274326" "00015997" "50" "-7070" "0" "-7070" "0" "c.-7070G>A" "r.(?)" "p.(=)" "" "0000305485" "00015997" "30" "181" "-5" "181" "-5" "c.181-5C>T" "r.spl?" "p.?" "" "0000503949" "00015997" "90" "432" "2" "432" "2" "c.432+2T>C" "r.spl?" "p.?" "" "0000503950" "00015997" "30" "181" "-5" "181" "-5" "c.181-5C>T" "r.spl?" "p.?" "" "0000503951" "00015997" "30" "-5353" "0" "-5353" "0" "c.-5353C>A" "r.(?)" "p.(=)" "" "0000503952" "00015997" "30" "-6872" "0" "-6872" "0" "c.-6872C>T" "r.(?)" "p.(=)" "" "0000503953" "00015997" "30" "-7416" "0" "-7416" "0" "c.-7416A>C" "r.(?)" "p.(=)" "" "0000503954" "00015997" "30" "-9366" "0" "-9366" "0" "c.-9366T>G" "r.(?)" "p.(=)" "" "0000503955" "00015997" "50" "-9679" "0" "-9679" "0" "c.-9679G>A" "r.(?)" "p.(=)" "" "0000503956" "00015997" "30" "-9701" "0" "-9701" "0" "c.-9701A>T" "r.(?)" "p.(=)" "" "0000604938" "00015997" "50" "-10668" "0" "-10668" "0" "c.-10668A>C" "r.(?)" "p.(=)" "" "0000686189" "00015997" "90" "320" "0" "320" "0" "c.320del" "r.(?)" "p.(Lys107Serfs*13)" "3" "0000686190" "00015997" "90" "320" "0" "320" "0" "c.320del" "r.(?)" "p.(Lys107Serfs*13)" "3" "0000686191" "00015997" "90" "763" "0" "763" "0" "c.763dup" "r.(?)" "p.(Met255Asnfs*25)" "6" "0000686192" "00015997" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Gln257*)" "" "0000687915" "00015997" "30" "-5550" "0" "-5550" "0" "c.-5550C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000311020" "0000686189" "0000311021" "0000686190" "0000311022" "0000686191" "0000311023" "0000686192"