### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPL15) # 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}}" "RPL15" "ribosomal protein L15" "3" "p24.1" "unknown" "NG_033850.2" "UD_136090926086" "" "https://www.LOVD.nl/RPL15" "" "1" "10306" "6138" "604174" "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/RPL15_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-12-29 19:11:42" "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}}" "00018099" "RPL15" "transcript variant 1" "003" "NM_002948.3" "" "NP_002939.2" "" "" "" "-380" "1970" "615" "23958295" "23962347" "" "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}}" "04001" "DBA12" "anemia, Diamond-Blackfan, type 12 (DBA-12)" "AD" "615550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RPL15" "04001" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00210871" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA145" "00210894" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA168" "00211086" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA360" "00211098" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel5" "00211099" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel6" "00211100" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel7" "00211101" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel8" "00211102" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel9" "00211103" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00210871" "05484" "00210894" "05484" "00211086" "05484" "00211098" "05484" "00211099" "05484" "00211100" "05484" "00211101" "05484" "00211102" "05484" "00211103" "05484" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04001, 05484 ## Count = 3 "{{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}}" "0000159433" "05484" "00210871" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159456" "05484" "00210894" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159648" "05484" "00211086" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000211949" "00210871" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211972" "00210894" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212164" "00211086" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000212176" "00211098" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212177" "00211099" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212178" "00211100" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212179" "00211101" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212180" "00211102" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212181" "00211103" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000211949" "RPL15" "0000211972" "RPL15" "0000212164" "RPL15" "0000212176" "RPL15" "0000212177" "RPL15" "0000212178" "RPL15" "0000212179" "RPL15" "0000212180" "RPL15" "0000212181" "RPL15" ## 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 = 23 "{{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}}" "0000329290" "0" "50" "3" "23934707" "23934708" "ins" "0" "01804" "NKIRAS1_000001" "g.23934707_23934708insA" "" "" "" "NKIRAS1(NM_020345.3):c.457_458insT (p.(Asp153ValfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23893216_23893217insA" "" "VUS" "" "0000329291" "0" "50" "3" "23934709" "23934711" "del" "0" "01804" "NKIRAS1_000002" "g.23934709_23934711del" "" "" "" "NKIRAS1(NM_020345.3):c.454_456del (p.(Thr152del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23893218_23893220del" "" "VUS" "" "0000443584" "1" "90" "3" "23960001" "23960001" "subst" "0" "00006" "RPL15_000004" "g.23960001C>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23918510C>G" "" "pathogenic (dominant)" "" "0000443607" "1" "90" "3" "23960053" "23960053" "subst" "0" "00006" "RPL15_000005" "g.23960053C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23918562C>T" "" "pathogenic (dominant)" "" "0000443807" "1" "90" "3" "23958295" "23962347" "del" "0" "00006" "RPL15_000001" "g.(?_23958295)_(23962347_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443819" "0" "70" "3" "23959349" "23959524" "del" "0" "00006" "RPL15_000002" "g.(?_23959349)_(23959524_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443820" "0" "70" "3" "23959349" "23959524" "del" "0" "00006" "RPL15_000002" "g.(?_23959349)_(23959524_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443821" "0" "70" "3" "23959880" "23960124" "del" "0" "00006" "RPL15_000003" "g.(?_23959880)_(23960124_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443822" "0" "70" "3" "23959880" "23960124" "del" "0" "00006" "RPL15_000003" "g.(?_23959880)_(23960124_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443823" "0" "70" "3" "23959880" "23960124" "del" "0" "00006" "RPL15_000003" "g.(?_23959880)_(23960124_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443824" "0" "70" "3" "23960685" "23960994" "del" "0" "00006" "RPL15_000006" "g.(?_23960685)_(23960994_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000518933" "0" "30" "3" "23960788" "23960788" "subst" "0" "01943" "NKIRAS1_000004" "g.23960788A>G" "" "" "" "RPL15(NM_001253379.2):c.411A>G (p.P137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23919297A>G" "" "likely benign" "" "0000518934" "0" "50" "3" "23960882" "23960882" "subst" "0" "02325" "NKIRAS1_000005" "g.23960882C>T" "" "" "" "RPL15(NM_001253380.2):c.505C>T (p.R169*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23919391C>T" "" "VUS" "" "0000676924" "0" "30" "3" "23963074" "23963074" "subst" "0" "01804" "NKIRAS1_000006" "g.23963074T>C" "" "" "" "RPL15(NM_001253384.1):c.361-15T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850214" "0" "50" "3" "23942433" "23942433" "subst" "4.06349E-6" "02325" "NKIRAS1_000007" "g.23942433C>T" "" "" "" "NKIRAS1(NM_001377372.1):c.106G>A (p.G36S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858937" "0" "30" "3" "23963134" "23963134" "subst" "0.00513125" "01804" "NKIRAS1_000008" "g.23963134C>T" "" "" "" "RPL15(NM_001253379.1):c.*2142C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928755" "0" "90" "3" "23960000" "23960000" "dup" "0" "02325" "NKIRAS1_000009" "g.23960000dup" "" "" "" "RPL15(NM_002948.5):c.242dupA (p.Y81*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975725" "0" "30" "3" "23963106" "23963109" "del" "0" "01804" "NKIRAS1_000010" "g.23963106_23963109del" "" "" "" "RPL15(NM_001253384.2):c.378_381del (p.(His126GlnfsTer66))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975726" "0" "30" "3" "23963134" "23963134" "del" "0.000107206" "01804" "NKIRAS1_000011" "g.23963134del" "" "" "" "RPL15(NM_001253384.2):c.406del (p.(Arg136Glyfs*57))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993550" "0" "30" "3" "23960913" "23960913" "subst" "8.39504E-6" "01804" "NKIRAS1_000012" "g.23960913A>G" "" "" "" "RPL15(NM_002948.3):c.536A>G (p.(Lys179Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993551" "0" "50" "3" "23963158" "23963158" "subst" "2.78391E-5" "01804" "NKIRAS1_000013" "g.23963158C>T" "" "" "" "RPL15(NM_001253384.1):c.430C>T (p.(Arg144Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033878" "0" "10" "3" "23959425" "23959425" "subst" "0.00523016" "01804" "NKIRAS1_000014" "g.23959425C>G" "" "" "" "RPL15(NM_002948.5):c.75C>G (p.(Val25=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001033879" "0" "30" "3" "23960943" "23960943" "subst" "0.000195314" "01804" "NKIRAS1_000015" "g.23960943G>A" "" "" "" "RPL15(NM_002948.5):c.566G>A (p.(Arg189Gln))" "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 RPL15 ## Count = 23 "{{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}}" "0000329290" "00018099" "50" "-23968" "0" "-23967" "0" "c.-23968_-23967insA" "r.(?)" "p.(=)" "" "0000329291" "00018099" "50" "-23966" "0" "-23964" "0" "c.-23966_-23964del" "r.(?)" "p.(=)" "" "0000443584" "00018099" "90" "243" "0" "243" "0" "c.243C>G" "r.(?)" "p.(Tyr81*)" "" "0000443607" "00018099" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Gln99*)" "" "0000443807" "00018099" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443819" "00018099" "70" "-2" "0" "172" "2" "c.(?_-2)_(172+2_?)del" "r.?" "p.0?" "" "0000443820" "00018099" "70" "-2" "0" "172" "2" "c.(?_-2)_(172+2_?)del" "r.?" "p.0?" "" "0000443821" "00018099" "70" "173" "-51" "309" "57" "c.(?_173-51)_(309+57_?)del" "r.?" "p.?" "" "0000443822" "00018099" "70" "173" "-51" "309" "57" "c.(?_173-51)_(309+57_?)del" "r.?" "p.?" "" "0000443823" "00018099" "70" "173" "-51" "309" "57" "c.(?_173-51)_(309+57_?)del" "r.?" "p.?" "" "0000443824" "00018099" "70" "310" "-2" "617" "0" "c.(?_310-2)_(*2_?)del" "r.?" "p.?" "" "0000518933" "00018099" "30" "411" "0" "411" "0" "c.411A>G" "r.(?)" "p.(Pro137=)" "" "0000518934" "00018099" "50" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Ter)" "" "0000676924" "00018099" "30" "2697" "0" "2697" "0" "c.*2082T>C" "r.(=)" "p.(=)" "" "0000850214" "00018099" "50" "-16242" "0" "-16242" "0" "c.-16242C>T" "r.(?)" "p.(=)" "" "0000858937" "00018099" "30" "2757" "0" "2757" "0" "c.*2142C>T" "r.(=)" "p.(=)" "" "0000928755" "00018099" "90" "242" "0" "242" "0" "c.242dup" "r.(?)" "p.(Tyr81*)" "" "0000975725" "00018099" "30" "2729" "0" "2732" "0" "c.*2114_*2117del" "r.(=)" "p.(=)" "" "0000975726" "00018099" "30" "2757" "0" "2757" "0" "c.*2142del" "r.(?)" "p.(=)" "" "0000993550" "00018099" "30" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Lys179Arg)" "" "0000993551" "00018099" "50" "2781" "0" "2781" "0" "c.*2166C>T" "r.(=)" "p.(=)" "" "0001033878" "00018099" "10" "75" "0" "75" "0" "c.75C>G" "r.(?)" "p.(=)" "" "0001033879" "00018099" "30" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Arg189Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000211949" "0000443584" "0000211972" "0000443607" "0000212164" "0000443807" "0000212176" "0000443819" "0000212177" "0000443820" "0000212178" "0000443821" "0000212179" "0000443822" "0000212180" "0000443823" "0000212181" "0000443824"