### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPS7) # 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}}" "RPS7" "ribosomal protein S7" "2" "p25" "unknown" "LRG_1148" "UD_132118215014" "" "https://www.LOVD.nl/RPS7" "" "1" "10440" "6201" "603658" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome. Initial data were obtained from the \"Diamond-Blackfan Anemia (DBA) Mutation Database\", pioneered by Ilenia Boria and Ugo Ramenghi (Boria et al. 2010, PMID:20960466)." "" "g" "https://databases.lovd.nl/shared/refseq/RPS7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-20 16:52:41" "00006" "2025-12-04 10:36:49" ## 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}}" "00018183" "RPS7" "ribosomal protein S7" "001" "NM_001011.3" "" "NP_001002.1" "" "" "" "-106" "622" "585" "3622853" "3628509" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03157" "DBA8" "anemia, Diamond-Blackfan, type 8 (DBA8)" "AD" "612563" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-20 16:52:59" "05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RPS7" "03157" "RPS7" "05484" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00211040" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA314" "00211168" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel75" "00211169" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel76" "00211170" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel77" "00362273" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "" "M" "" "United States" "" "0" "" "" "" "Pat32" "00374169" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00470614" "" "" "" "1" "" "00006" "{PMID:Wai 2020:32123317}" "studied effect of variant on RNA" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat243" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00211040" "05484" "00211168" "05484" "00211169" "05484" "00211170" "05484" "00362273" "05484" "00374169" "00198" "00470614" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03157, 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/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000159602" "05484" "00211040" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000257690" "05484" "00362273" "00006" "Isolated (sporadic)" "" "no malformation, responsive to first steroid therapy" "" "" "" "" "" "" "" "" "DBA8" "Diamond-Blackfan anemia" "" "0000269379" "00198" "00374169" "01807" "Unknown" "" "Polycystic kidney dysplasia (HP:0000113); Epicanthus (HP:0000286); Growth delay (HP:0001510); Macrocytic anemia (HP:0001972); Aplasia/Hypoplasia of the nails (HP:0008386); Abnormal distal phalanx morphology of finger (HP:0009832)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000212118" "00211040" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212246" "00211168" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212247" "00211169" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212248" "00211170" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000363502" "00362273" "1" "00006" "00006" "2021-04-20 16:54:20" "" "" "SEQ" "DNA" "" "" "0000375363" "00374169" "1" "01807" "01807" "2021-05-24 13:09:01" "" "" "SEQ" "DNA" "" "" "0000472281" "00470614" "1" "00006" "00006" "2025-12-04 10:36:21" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000212118" "RPS7" "0000212246" "RPS7" "0000212247" "RPS7" "0000212248" "RPS7" "0000363502" "RPS7" "0000472281" "RPS7" ## 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}}" "0000443761" "1" "90" "2" "3623275" "3623275" "subst" "0" "00006" "RPS7_000002" "g.3623275G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.3575685G>A" "" "pathogenic (dominant)" "" "0000443889" "0" "70" "2" "3623198" "3623276" "del" "0" "00006" "RPS7_000001" "g.(?_3623198)_(3623276_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443890" "0" "70" "2" "3625298" "3625366" "del" "0" "00006" "RPS7_000003" "g.(?_3625298)_(3625366_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443891" "0" "70" "2" "3628393" "3628474" "del" "0" "00006" "RPS7_000004" "g.(?_3628393)_(3628474_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000764198" "0" "90" "2" "3623479" "3623479" "subst" "0" "00006" "RPS7_000005" "g.3623479G>A" "" "{PMID:Gazda 2008:19061985}" "" "IVS3+1g>a" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000786713" "3" "50" "2" "3628386" "3628390" "del" "0" "01807" "RPS7_000006" "g.3628386_3628390del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.3580796_3580800del" "" "VUS" "" "0000800588" "0" "30" "2" "3628430" "3628430" "subst" "4.89576E-5" "01943" "RPS7_000007" "g.3628430G>A" "" "" "" "RPS7(NM_001011.4):c.543G>A (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849872" "0" "10" "2" "3627697" "3627697" "dup" "0" "02326" "RPS7_000008" "g.3627697dup" "" "" "" "RPS7(NM_001011.4):c.357-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923688" "0" "70" "2" "3622942" "3622942" "subst" "0" "02326" "RPS7_000009" "g.3622942T>G" "" "" "" "RPS7(NM_001011.4):c.-19+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033303" "0" "50" "2" "3623276" "3623276" "subst" "0" "01804" "RPS7_000010" "g.3623276T>G" "" "" "" "RPS7(NM_001011.4):c.75+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060693" "0" "30" "2" "3627853" "3627853" "subst" "0" "00006" "RPS7_000011" "g.3627853A>G" "" "{PMID:Wai 2020:32123317}" "" "" "no effect on splicing observed" "Germline" "" "" "0" "" "" "g.3580263A>G" "" "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 RPS7 ## 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}}" "0000443761" "00018183" "90" "75" "1" "75" "1" "c.75+1G>A" "r.spl" "p.?" "" "0000443889" "00018183" "70" "-2" "0" "75" "2" "c.(?_-2)_(75+2_?)del" "r.?" "p.0?" "" "0000443890" "00018183" "70" "292" "-2" "356" "2" "c.(?_292-2)_(356+2_?)del" "r.?" "p.?" "" "0000443891" "00018183" "70" "508" "-2" "587" "0" "c.(?_508-2)_(*2_?)del" "r.?" "p.?" "" "0000764198" "00018183" "90" "147" "1" "147" "1" "c.147+1G>A" "r.spl" "p.?" "3i" "0000786713" "00018183" "50" "508" "-9" "508" "-5" "c.508-9_508-5del" "r.(?)" "p.(?)" "" "0000800588" "00018183" "30" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(Thr181=)" "" "0000849872" "00018183" "10" "357" "-3" "357" "-3" "c.357-3dup" "r.spl?" "p.?" "" "0000923688" "00018183" "70" "-19" "2" "-19" "2" "c.-19+2T>G" "r.spl?" "p.?" "" "0001033303" "00018183" "50" "75" "2" "75" "2" "c.75+2T>G" "r.spl?" "p.?" "" "0001060693" "00018183" "30" "507" "3" "507" "3" "c.507+3A>G" "r.507_508=" "p.=" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000212118" "0000443761" "0000212246" "0000443889" "0000212247" "0000443890" "0000212248" "0000443891" "0000363502" "0000764198" "0000375363" "0000786713" "0000472281" "0001060693"