### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POLR3GL) # 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}}" "POLR3GL" "polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like" "1" "q21.1" "unknown" "NC_000001.10" "UD_136090199969" "" "https://www.LOVD.nl/POLR3GL" "" "1" "28466" "84265" "0" "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/POLR3GL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-05 12:22:53" "00000" "2025-11-01 13:22:20" ## 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}}" "00016523" "POLR3GL" "polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like" "001" "NM_032305.1" "" "NP_115681.1" "" "" "" "-107" "1058" "657" "145470387" "145456236" "" "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}}" "05375" "progeroid" "progeroid syndrome (premature aging)" "" "" "" "" "" "00006" "2018-01-12 16:46:58" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00245067" "" "" "" "1" "" "00081" "" "" "-" "no" "Canada" "" "0" "" "" "French-Canadian" "1" "00438570" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0016" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00245067" "05375" "00438570" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05375, 06906 ## Count = 2 "{{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}}" "0000185025" "05375" "00245067" "00081" "Familial, autosomal recessive" "" "progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome)" "" "" "" "" "" "" "" "" "" "0000328473" "06906" "00438570" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000246179" "00245067" "1" "00081" "00081" "2019-06-30 23:10:53" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000440052" "00438570" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000246179" "POLR3GL" ## 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 = 21 "{{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}}" "0000306140" "0" "50" "1" "145457563" "145457563" "subst" "0" "01943" "POLR3GL_000001" "g.145457563T>C" "" "" "" "POLR3GL(NM_032305.3):c.367A>G (p.K123E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145977524A>G" "" "VUS" "" "0000498533" "0" "90" "1" "145457572" "145457572" "subst" "8.12156E-6" "00081" "POLR3GL_000002" "g.145457572G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.145977515C>T" "" "likely pathogenic (recessive)" "" "0000502979" "0" "50" "1" "145473384" "145473384" "subst" "0" "01804" "POLR3GL_000003" "g.145473384G>A" "" "" "" "ANKRD34A(NM_001039888.2):c.54G>A (p.(Arg19His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000502981" "0" "30" "1" "145474625" "145474625" "dup" "0" "01804" "POLR3GL_000005" "g.145474625dup" "" "" "" "ANKRD34A(NM_001039888.2):c.1295dup (p.(His433ProfsTer6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798754" "0" "90" "1" "145457605" "145457605" "subst" "8.12222E-6" "01943" "POLR3GL_000007" "g.145457605C>T" "" "" "" "POLR3GL(NM_032305.3):c.326-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798755" "0" "90" "1" "145460264" "145460264" "subst" "2.28516E-5" "01943" "POLR3GL_000008" "g.145460264C>T" "" "" "" "POLR3GL(NM_032305.3):c.-41-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000936367" "0" "50" "1" "145474044" "145474044" "subst" "0" "00006" "ANKRD34A_000001" "g.145474044C>G" "" "{PMID:Hamdan 2017:29100083}" "" "NM_001039888:c.C716G (P239R)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000946959" "0" "90" "1" "145457605" "145457605" "subst" "8.12222E-6" "02327" "POLR3GL_000007" "g.145457605C>T" "" "" "" "POLR3GL(NM_032305.3):c.326-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000946960" "0" "30" "1" "145460194" "145460194" "subst" "0.000127628" "01804" "POLR3GL_000009" "g.145460194C>T" "" "" "" "POLR3GL(NM_001330685.1):c.29G>A (p.(Arg10His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946961" "0" "90" "1" "145460264" "145460264" "subst" "2.28516E-5" "02327" "POLR3GL_000008" "g.145460264C>T" "" "" "" "POLR3GL(NM_032305.3):c.-41-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973279" "0" "50" "1" "145457961" "145457961" "subst" "0" "01804" "POLR3GL_000010" "g.145457961A>G" "" "" "" "POLR3GL(NM_032305.3):c.299T>C (p.(Ile100Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031210" "0" "50" "1" "145457548" "145457548" "subst" "8.12209E-6" "01804" "POLR3GL_000011" "g.145457548G>A" "" "" "" "POLR3GL(NM_032305.3):c.382C>T (p.(Arg128Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031211" "0" "50" "1" "145457586" "145457586" "subst" "3.24889E-5" "01804" "POLR3GL_000012" "g.145457586C>T" "" "" "" "POLR3GL(NM_032305.3):c.344G>A (p.(Arg115Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031212" "0" "50" "1" "145457598" "145457598" "subst" "3.24889E-5" "01804" "POLR3GL_000013" "g.145457598C>T" "" "" "" "POLR3GL(NM_032305.3):c.332G>A (p.(Arg111Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031213" "0" "50" "1" "145459746" "145459746" "subst" "1.62464E-5" "01804" "POLR3GL_000014" "g.145459746G>A" "" "" "" "POLR3GL(NM_032305.3):c.162C>T (p.(Gly54=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031214" "0" "50" "1" "145460201" "145460201" "subst" "0.000233509" "01804" "POLR3GL_000015" "g.145460201G>A" "" "" "" "POLR3GL(NM_032305.3):c.22C>T (p.(Arg8Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031215" "0" "70" "1" "145460264" "145460264" "subst" "2.28516E-5" "01804" "POLR3GL_000008" "g.145460264C>T" "" "" "" "POLR3GL(NM_032305.3):c.-41-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001050235" "0" "50" "1" "145456645" "145456645" "subst" "2.43776E-5" "01804" "POLR3GL_000016" "g.145456645T>C" "" "" "" "POLR3GL(NM_032305.3):c.649A>G (p.(Ile217Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050236" "0" "50" "1" "145457106" "145457106" "subst" "2.05084E-5" "01804" "POLR3GL_000017" "g.145457106T>C" "" "" "" "POLR3GL(NM_032305.3):c.457-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050237" "0" "70" "1" "145457605" "145457605" "subst" "8.12222E-6" "01804" "POLR3GL_000007" "g.145457605C>T" "" "" "" "POLR3GL(NM_032305.3):c.326-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001050238" "0" "50" "1" "145460265" "145460265" "del" "0" "01804" "POLR3GL_000018" "g.145460265del" "" "" "" "POLR3GL(NM_032305.3):c.-41-2del" "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 POLR3GL ## Count = 21 "{{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}}" "0000306140" "00016523" "50" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Lys123Glu)" "" "0000498533" "00016523" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120*)" "" "0000502979" "00016523" "50" "-3104" "0" "-3104" "0" "c.-3104C>T" "r.(?)" "p.(=)" "" "0000502981" "00016523" "30" "-4342" "0" "-4342" "0" "c.-4342dup" "r.(?)" "p.(=)" "" "0000798754" "00016523" "90" "326" "-1" "326" "-1" "c.326-1G>A" "r.spl?" "p.?" "" "0000798755" "00016523" "90" "-41" "-1" "-41" "-1" "c.-41-1G>A" "r.spl?" "p.?" "" "0000936367" "00016523" "50" "-3764" "0" "-3764" "0" "c.-3764G>C" "r.(=)" "p.(=)" "" "0000946959" "00016523" "90" "326" "-1" "326" "-1" "c.326-1G>A" "r.spl?" "p.?" "" "0000946960" "00016523" "30" "29" "0" "29" "0" "c.29G>A" "r.(?)" "p.(Arg10His)" "" "0000946961" "00016523" "90" "-41" "-1" "-41" "-1" "c.-41-1G>A" "r.spl?" "p.?" "" "0000973279" "00016523" "50" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Ile100Thr)" "" "0001031210" "00016523" "50" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Arg128Trp)" "" "0001031211" "00016523" "50" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Gln)" "" "0001031212" "00016523" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111Gln)" "" "0001031213" "00016523" "50" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(=)" "" "0001031214" "00016523" "50" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Trp)" "" "0001031215" "00016523" "70" "-41" "-1" "-41" "-1" "c.-41-1G>A" "r.spl?" "p.?" "" "0001050235" "00016523" "50" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Ile217Val)" "" "0001050236" "00016523" "50" "457" "-2" "457" "-2" "c.457-2A>G" "r.spl?" "p.?" "" "0001050237" "00016523" "70" "326" "-1" "326" "-1" "c.326-1G>A" "r.spl?" "p.?" "" "0001050238" "00016523" "50" "-41" "-2" "-41" "-2" "c.-41-2del" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000246179" "0000498533" "0000440052" "0000936367"