### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POU4F1) # 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}}" "POU4F1" "POU class 4 homeobox 1" "13" "q31.1" "unknown" "NC_000013.10" "UD_136090213473" "" "https://www.LOVD.nl/POU4F1" "" "1" "9218" "5457" "601632" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/POU4F1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-18 07:54:52" "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}}" "00016575" "POU4F1" "POU class 4 homeobox 1" "001" "NM_006237.3" "" "NP_006228.3" "" "" "" "-234" "3583" "1260" "79177695" "79173227" "" "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}}" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" ## 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}}" "00359271" "" "" "" "1" "" "01857" "" "" "" "" "" "" "" "" "" "" "POU4F1_Proband1" "00359428" "" "" "" "1" "" "01857" "" "" "" "" "" "" "" "" "" "" "POU4F1_Proband2" "00359429" "" "" "" "1" "" "01857" "" "" "" "" "" "" "" "" "" "" "POU4F1_Proband3" "00359430" "" "" "" "1" "" "01857" "" "" "" "" "" "" "" "" "" "" "POU4F1_Proband4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00359271" "05356" "00359428" "05356" "00359429" "05356" "00359430" "05356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05356 ## 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}}" "0000360509" "00359271" "1" "01857" "01857" "2021-03-18 17:18:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000360670" "00359428" "1" "01857" "01857" "2021-03-22 00:21:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000360671" "00359429" "1" "01857" "01857" "2021-03-22 00:24:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000360672" "00359430" "1" "01857" "01857" "2021-03-22 00:27:20" "" "" "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 = 11 "{{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}}" "0000307185" "0" "50" "13" "79190352" "79190352" "subst" "8.16347E-6" "01943" "RNF219_000001" "g.79190352C>T" "" "" "" "RNF219(NM_024546.4):c.1544G>A (p.R515H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78616217C>T" "" "VUS" "" "0000679847" "0" "50" "13" "79189797" "79189797" "subst" "8.12546E-6" "01943" "POU4F1_000001" "g.79189797T>A" "" "" "" "RNF219(NM_024546.4):c.2099A>T (p.N700I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000760531" "0" "90" "13" "79175893" "79175893" "subst" "0" "01857" "POU4F1_000002" "g.79175893T>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "VUS" "" "0000760743" "0" "70" "13" "79176649" "79176652" "dup" "0" "01857" "POU4F1_000005" "g.79176649_79176652dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.78602514_78602517dup" "" "VUS" "" "0000760744" "0" "70" "13" "79176522" "79176529" "del" "0" "01857" "POU4F1_000003" "g.79176522_79176529del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.78602387_78602394del" "" "likely pathogenic" "" "0000760745" "0" "70" "13" "79176530" "79176540" "del" "0" "01857" "POU4F1_000004" "g.79176530_79176540del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.78602395_78602405del" "" "VUS" "" "0000806211" "0" "50" "13" "79189856" "79189856" "subst" "0" "01804" "POU4F1_000006" "g.79189856G>C" "" "" "" "RNF219(NM_024546.3):c.2040C>G (p.(His680Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980720" "0" "30" "13" "79176510" "79176512" "dup" "0" "01804" "POU4F1_000007" "g.79176510_79176512dup" "" "" "" "POU4F1(NM_006237.4):c.324_326dup (p.(His108dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980721" "0" "30" "13" "79176674" "79176674" "subst" "0.00369893" "01804" "POU4F1_000008" "g.79176674G>A" "" "" "" "POU4F1(NM_006237.4):c.136C>T (p.(Leu46Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039747" "0" "50" "13" "79175845" "79175849" "del" "0" "01804" "POU4F1_000009" "g.79175845_79175849del" "" "" "" "POU4F1(NM_006237.4):c.961_965del (p.(Asn321Aspfs*26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039748" "0" "50" "13" "79175845" "79175850" "del" "0" "01804" "POU4F1_000010" "g.79175845_79175850del" "" "" "" "POU4F1(NM_006237.4):c.960_965del (p.(Asn320_Met322delinsLys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 POU4F1 ## Count = 11 "{{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}}" "0000307185" "00016575" "50" "-12891" "0" "-12891" "0" "c.-12891G>A" "r.(?)" "p.(=)" "" "0000679847" "00016575" "50" "-12336" "0" "-12336" "0" "c.-12336A>T" "r.(?)" "p.(=)" "" "0000760531" "00016575" "90" "917" "0" "917" "0" "c.917A>G" "r.(?)" "p.(Gln306Arg)" "" "0000760743" "00016575" "70" "158" "0" "161" "0" "c.158_161dup" "r.(?)" "p.(Leu55Alafs*295)" "" "0000760744" "00016575" "70" "283" "0" "290" "0" "c.283_290del" "r.(?)" "p.(Thr95Serfs*251)" "" "0000760745" "00016575" "70" "271" "0" "281" "0" "c.271_281del" "r.(?)" "p.(Thr91Hisfs*254)" "" "0000806211" "00016575" "50" "-12395" "0" "-12395" "0" "c.-12395C>G" "r.(?)" "p.(=)" "" "0000980720" "00016575" "30" "324" "0" "326" "0" "c.324_326dup" "r.(?)" "p.(His108dup)" "" "0000980721" "00016575" "30" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Leu46Phe)" "" "0001039747" "00016575" "50" "961" "0" "965" "0" "c.961_965del" "r.(?)" "p.(Asn321Aspfs*26)" "" "0001039748" "00016575" "50" "960" "0" "965" "0" "c.960_965del" "r.(?)" "p.(Asn320_Met322delinsLys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000360509" "0000760531" "0000360670" "0000760743" "0000360671" "0000760744" "0000360672" "0000760745"