### 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" "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}}" "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 = 6 "{{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" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00211040" "05484" "00211168" "05484" "00211169" "05484" "00211170" "05484" "00362273" "05484" "00374169" "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 = 6 "{{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" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000212118" "RPS7" "0000212246" "RPS7" "0000212247" "RPS7" "0000212248" "RPS7" "0000363502" "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 = 10 "{{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" "" ## 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 = 10 "{{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.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000212118" "0000443761" "0000212246" "0000443889" "0000212247" "0000443890" "0000212248" "0000443891" "0000363502" "0000764198" "0000375363" "0000786713"