### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDE7B) # 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}}" "PDE7B" "phosphodiesterase 7B" "6" "q23-q24" "unknown" "NG_011994.1" "UD_132085395533" "" "https://www.LOVD.nl/PDE7B" "Globin Gene Server databases \r\nHbVar " "1" "8792" "27115" "604645" "1" "1" "1" "1" "This gene is part of the Globin Gene Server databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "This gene is part of the Globin Gene Server databases." "-1" "" "-1" "00001" "2009-02-18 00:00:00" "00006" "2019-11-01 10:36:33" "00000" "2020-06-22 10:27:24" ## 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}}" "00015890" "PDE7B" "phosphodiesterase 7B" "001" "NM_018945.3" "" "NP_061818.1" "" "" "" "-303" "5084" "1353" "136172834" "136516709" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00267100" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267101" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267102" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267103" "" "" "" "1" "" "03464" "{PMID:Patrinos and Grosveld 2008:18275000}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00267100" "00198" "00267101" "00198" "00267102" "00198" "00267103" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 0 ## 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}}" "0000268229" "00267100" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268230" "00267101" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268231" "00267102" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268232" "00267103" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000268229" "PDE7B" "0000268230" "PDE7B" "0000268231" "PDE7B" "0000268232" "PDE7B" ## 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 = 4 "{{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}}" "0000600906" "0" "50" "6" "136499528" "136499528" "subst" "0" "03464" "PDE7B_000003" "g.136499528C>T" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs1480642" "0" "" "" "g.136178390C>T" "" "VUS" "" "0000600907" "0" "50" "6" "136359446" "136359446" "subst" "0" "03464" "PDE7B_000002" "g.136359446A>C" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs9376173" "0" "" "" "g.136038308A>C" "" "VUS" "" "0000600908" "0" "50" "6" "136353305" "136353305" "subst" "0" "03464" "PDE7B_000001" "g.136353305C>T" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs11154849" "0" "" "" "g.136032167C>T" "" "VUS" "" "0000600909" "0" "50" "6" "136501828" "136501828" "subst" "0" "03464" "PDE7B_000004" "g.136501828G>A" "" "{PMID:Patrinos and Grosveld 2008:18275000}" "" "" "" "Germline" "" "rs487278" "0" "" "" "g.136180690G>A" "" "VUS" "" ## 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 PDE7B ## Count = 4 "{{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}}" "0000600906" "00015890" "50" "804" "-607" "804" "-607" "c.804-607C>T" "r.(=)" "p.(=)" "" "0000600907" "00015890" "50" "83" "-70423" "83" "-70423" "c.83-70423A>C" "r.(=)" "p.(=)" "" "0000600908" "00015890" "50" "83" "-76564" "83" "-76564" "c.83-76564C>T" "r.(=)" "p.(=)" "" "0000600909" "00015890" "50" "949" "-537" "949" "-537" "c.949-537G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000268229" "0000600906" "0000268230" "0000600907" "0000268231" "0000600908" "0000268232" "0000600909"