### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPL35) # 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}}" "RPL35" "ribosomal protein L35" "9" "q34.1" "unknown" "LRG_1129" "UD_136018635379" "" "https://www.LOVD.nl/RPL35" "" "1" "10344" "11224" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-12-30 09:32:20" "00000" "2024-08-28 13:16:32" ## 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}}" "00018133" "RPL35" "ribosomal protein L35" "001" "NM_007209.3" "" "NP_009140.1" "" "" "" "-49" "411" "372" "127624240" "127620158" "" "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}}" "05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" "" "06826" "DBA19" "?Diamond-Blackfan anemia 19" "AD" "618312" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RPL35" "06826" ## 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}}" "00210780" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA054" "00210781" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA055" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00210780" "05484" "00210781" "05484" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05484, 06826 ## 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}}" "0000159342" "05484" "00210780" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159343" "05484" "00210781" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" ## 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}}" "0000211858" "00210780" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000211859" "00210781" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000211858" "RPL35" "0000211858" "RPS19" "0000211859" "RPL35" "0000211859" "RPS19" ## 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 = 7 "{{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}}" "0000443488" "1" "90" "9" "127620338" "127620338" "subst" "0" "00006" "RPL35_000001" "g.127620338C>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.124858059C>G" "" "pathogenic (dominant)" "" "0000443490" "1" "90" "9" "127620338" "127620338" "subst" "0" "00006" "RPL35_000001" "g.127620338C>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.124858059C>G" "" "pathogenic (dominant)" "" "0000536259" "0" "30" "9" "127618242" "127618242" "subst" "0.00463603" "01804" "RPL35_000002" "g.127618242G>A" "" "" "" "WDR38(NM_001045476.1):c.405+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124855963G>A" "" "likely benign" "" "0000536260" "0" "30" "9" "127622499" "127622499" "subst" "0" "01804" "ARPC5L_000001" "g.127622499T>C" "" "" "" "RPL35(NM_007209.3):c.185A>G (p.(Asn62Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124860220T>C" "" "likely benign" "" "0000611852" "0" "30" "9" "127618007" "127618007" "subst" "0.000203563" "01943" "RPL35_000003" "g.127618007G>A" "" "" "" "WDR38(NM_001276374.1):c.285G>A (p.A95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124855728G>A" "" "likely benign" "" "0000611853" "0" "50" "9" "127619146" "127619146" "subst" "1.62632E-5" "01943" "RPL35_000004" "g.127619146G>A" "" "" "" "WDR38(NM_001276374.1):c.754G>A (p.G252S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124856867G>A" "" "VUS" "" "0000997488" "0" "50" "9" "127617940" "127617941" "del" "0.000326808" "01804" "RPL35_000005" "g.127617940_127617941del" "" "" "" "WDR38(NM_001276374.1):c.218_219delCT (p.(Pro73fs))" "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 RPL35 ## Count = 7 "{{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}}" "0000443488" "00018133" "90" "231" "0" "231" "0" "c.231G>C" "r.(?)" "p.(Lys77Asn)" "" "0000443490" "00018133" "90" "231" "0" "231" "0" "c.231G>C" "r.(?)" "p.(Lys77Asn)" "" "0000536259" "00018133" "30" "2327" "0" "2327" "0" "c.*1955C>T" "r.(=)" "p.(=)" "" "0000536260" "00018133" "30" "185" "0" "185" "0" "c.185A>G" "r.(?)" "p.(Asn62Ser)" "" "0000611852" "00018133" "30" "2562" "0" "2562" "0" "c.*2190C>T" "r.(=)" "p.(=)" "" "0000611853" "00018133" "50" "1423" "0" "1423" "0" "c.*1051C>T" "r.(=)" "p.(=)" "" "0000997488" "00018133" "50" "2628" "0" "2629" "0" "c.*2256_*2257del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000211858" "0000443488" "0000211859" "0000443490"