### LOVD-version 3000-230 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX14) # 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}}" "PEX14" "peroxisomal biogenesis factor 14" "1" "p36.22" "unknown" "NG_008340.1" "UD_132118954983" "" "http://www.LOVD.nl/PEX14" "" "1" "8856" "5195" "601791" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PEX14_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2006-05-05 00:00:00" "00006" "2015-09-25 13:51:37" "00001" "2019-12-04 14:54:28" ## 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}}" "00001598" "PEX14" "peroxisomal biogenesis factor 14" "001" "NM_004565.2" "" "NP_004556.1" "" "" "" "-21" "1905" "1134" "10535003" "10690815" "00000" "2012-09-13 13:41:47" "" "" ## 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}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32" "03778" "PBD-13A" "peroxisome biogenesis disorder, type 13A (PBD-13A)" "" "614887" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:51:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PEX14" "03778" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00000209" "" "" "" "1" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 03778 ## 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}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" ## 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}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" ## 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 = 9 "{{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}}" "0000011361" "3" "30" "1" "10631455" "10631455" "subst" "0" "00037" "PEX14_000004" "g.10631455C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10571398C>G" "" "0000248959" "0" "10" "1" "10678488" "10678488" "subst" "0.186529" "02333" "PEX14_000008" "g.10678488A>T" "" "" "" "PEX14(NM_004565.2):c.384+14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000296905" "0" "10" "1" "10596341" "10596341" "subst" "0.24927" "02333" "PEX14_000005" "g.10596341C>T" "" "" "" "PEX14(NM_004565.2):c.156C>T (p.F52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000320532" "0" "50" "1" "10678421" "10678421" "subst" "0" "02333" "PEX14_000007" "g.10678421G>A" "" "" "" "PEX14(NM_004565.2):c.331G>A (p.(Ala111Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000502370" "0" "30" "1" "10683091" "10683091" "subst" "0.000153775" "02333" "PEX14_000010" "g.10683091C>G" "" "" "" "PEX14(NM_004565.2):c.400C>G (p.L134V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000502371" "0" "30" "1" "10683142" "10683142" "subst" "0.000461326" "02333" "PEX14_000011" "g.10683142G>A" "" "" "" "PEX14(NM_004565.2):c.451G>A (p.(Gly151Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000502372" "0" "50" "1" "10684484" "10684484" "subst" "0.000768876" "02333" "PEX14_000012" "g.10684484C>G" "" "" "" "PEX14(NM_004565.2):c.575C>G (p.A192G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000604629" "0" "50" "1" "10555356" "10555356" "subst" "0" "02333" "PEX14_000013" "g.10555356A>T" "" "" "" "PEX14(NM_004565.2):c.62A>T (p.N21I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000604630" "0" "30" "1" "10596336" "10596336" "subst" "0" "02333" "PEX14_000014" "g.10596336G>A" "" "" "" "PEX14(NM_004565.2):c.151G>A (p.A51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" ## 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 PEX14 ## Count = 9 "{{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}}" "{{VariantOnTranscript/Classification}}" "0000011361" "00001598" "30" "170" "-27840" "170" "-27840" "c.170-27840C>G" "r.(?)" "p.(=)" "3i" "" "0000248959" "00001598" "10" "384" "14" "384" "14" "c.384+14A>T" "r.(=)" "p.(=)" "" "benign" "0000296905" "00001598" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(=)" "" "benign" "0000320532" "00001598" "50" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "" "VUS" "0000502370" "00001598" "30" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Leu134Val)" "" "likely benign" "0000502371" "00001598" "30" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Gly151Ser)" "" "likely benign" "0000502372" "00001598" "50" "575" "0" "575" "0" "c.575C>G" "r.(?)" "p.(Ala192Gly)" "" "VUS" "0000604629" "00001598" "50" "62" "0" "62" "0" "c.62A>T" "r.(?)" "p.(Asn21Ile)" "" "VUS" "0000604630" "00001598" "30" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Ala51Thr)" "" "likely benign" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011361"