### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRAPPC12) # 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}}" "TRAPPC12" "trafficking protein particle complex 12" "2" "p25.3" "unknown" "NC_000002.11" "UD_136019878698" "" "https://www.LOVD.nl/TRAPPC12" "" "1" "24284" "51112" "614139" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TRAPPC12_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-03-19 15:50:27" "00000" "2025-05-05 21:14:00" ## 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}}" "00021767" "TRAPPC12" "trafficking protein particle complex 12" "001" "NM_016030.5" "" "NP_057114.5" "" "" "" "-206" "2318" "2208" "3383446" "3483342" "" "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}}" "00787" "-" "encephalopathy, neonatal, severe" "XLR" "300673" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05585" "PEBAS" "encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS)" "AR" "617669" "" "autosomal recessive" "" "00006" "2019-03-19 15:51:39" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TRAPPC12" "05585" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00228163" "" "" "" "1" "" "03216" "" "" "M" "yes" "Syria" "01y09m" "0" "" "" "" "00226093" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00228163" "00787" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00787, 05585 ## Count = 1 "{{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}}" "0000172075" "00787" "00228163" "03216" "Familial, autosomal recessive" "01y" "microcephaly, pachygyria, polymicrogyria, encephalopathy, abnormal cortical gyrus, corpus callosum agenesia, brain atrophy" "" "" "" "" "" "" "" "PEBAS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000229252" "00228163" "1" "03216" "03216" "2019-03-19 14:49:10" "" "" "SEQ" "DNA" "Blood" "WES and Sanger" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000229252" "TRAPPC12" ## 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 = 10 "{{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}}" "0000470403" "3" "90" "2" "3391535" "3391535" "subst" "1.64514E-5" "03216" "TRAPPC12_000001" "g.3391535G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.3387764G>C" "" "VUS" "ACMG" "0000515740" "0" "30" "2" "3392127" "3392127" "subst" "0.00916272" "01804" "TRAPPC12_000002" "g.3392127C>T" "" "" "" "TRAPPC12(NM_016030.5):c.733C>T (p.(Pro245Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3388356C>T" "" "likely benign" "" "0000515741" "0" "30" "2" "3405623" "3405623" "subst" "0.000610232" "01804" "TRAPPC12_000003" "g.3405623G>T" "" "" "" "TRAPPC12(NM_016030.5):c.1123G>T (p.(Asp375Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3401852G>T" "" "likely benign" "" "0000515742" "0" "30" "2" "3461458" "3461458" "subst" "4.11719E-5" "01804" "TRAPPC12_000004" "g.3461458A>G" "" "" "" "TRAPPC12(NM_016030.5):c.1597A>G (p.(Arg533Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3457687A>G" "" "likely benign" "" "0000515743" "0" "30" "2" "3469399" "3469399" "subst" "0.0012751" "01804" "TRAPPC12_000005" "g.3469399C>T" "" "" "" "TRAPPC12(NM_016030.5):c.1709C>T (p.(Ser570Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3465628C>T" "" "likely benign" "" "0000885142" "0" "50" "2" "3391854" "3391854" "subst" "0" "02325" "TRAPPC12_000006" "g.3391854G>A" "" "" "" "TRAPPC12(NM_016030.6):c.460G>A (p.A154T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975250" "0" "50" "2" "3392074" "3392074" "subst" "0" "01804" "TRAPPC12_000007" "g.3392074T>G" "" "" "" "TRAPPC12(NM_016030.6):c.680T>G (p.(Phe227Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975251" "0" "30" "2" "3469449" "3469449" "subst" "0.000844663" "01804" "TRAPPC12_000008" "g.3469449G>A" "" "" "" "TRAPPC12(NM_016030.6):c.1759G>A (p.(Gly587Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024573" "0" "50" "2" "3461389" "3461389" "subst" "6.93419E-5" "02329" "TRAPPC12_000009" "g.3461389C>T" "" "" "" "TRAPPC12(NM_016030.6):c.1531-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033302" "0" "30" "2" "3483022" "3483022" "subst" "4.06593E-6" "01804" "TRAPPC12_000010" "g.3483022C>T" "" "" "" "TRAPPC12(NM_016030.6):c.1998C>T (p.(Tyr666=))" "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 TRAPPC12 ## Count = 10 "{{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}}" "0000470403" "00021767" "90" "141" "0" "141" "0" "c.141G>C" "r.(?)" "p.(Glu47Asp)" "" "0000515740" "00021767" "30" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Pro245Ser)" "" "0000515741" "00021767" "30" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Asp375Tyr)" "" "0000515742" "00021767" "30" "1597" "0" "1597" "0" "c.1597A>G" "r.(?)" "p.(Arg533Gly)" "" "0000515743" "00021767" "30" "1709" "0" "1709" "0" "c.1709C>T" "r.(?)" "p.(Ser570Leu)" "" "0000885142" "00021767" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Ala154Thr)" "" "0000975250" "00021767" "50" "680" "0" "680" "0" "c.680T>G" "r.(?)" "p.(Phe227Cys)" "" "0000975251" "00021767" "30" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Gly587Ser)" "" "0001024573" "00021767" "50" "1531" "-3" "1531" "-3" "c.1531-3C>T" "r.spl?" "p.?" "" "0001033302" "00021767" "30" "1998" "0" "1998" "0" "c.1998C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000229252" "0000470403"