### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPS6KB1) # 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}}" "RPS6KB1" "ribosomal protein S6 kinase, 70kDa, polypeptide 1" "17" "q23.1" "unknown" "NG_029513.1" "UD_132084394772" "" "https://www.LOVD.nl/RPS6KB1" "" "1" "10436" "6198" "608938" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-29 16:21:41" "00006" "2022-09-29 16:23:35" ## 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}}" "00018179" "RPS6KB1" "ribosomal protein S6 kinase, 70kDa, polypeptide 1" "001" "NM_003161.2" "" "NP_003152.1" "" "" "" "-103" "5216" "1578" "57970443" "58027787" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RPS6KB1" "00351" ## 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}}" "00418519" "" "" "" "1" "" "00006" "{PMID:Jain 2022:34916228}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "India" "" "0" "" "" "" "P1" "00418520" "" "" "" "1" "" "00006" "{PMID:Jain 2022:34916228}" "3-generation family, 4 affected (F, 3M)" "M" "" "India" "" "0" "" "" "" "Fam2P2" "00418521" "" "" "" "1" "" "00006" "{PMID:Jain 2022:34916228}" "sister" "F" "" "India" "" "0" "" "" "" "Fam2P3" "00418522" "" "" "" "1" "" "00006" "{PMID:Jain 2022:34916228}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "P4" "00418523" "" "" "" "1" "" "00006" "{PMID:Jain 2022:34916228}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "P5" "00418524" "" "" "" "1" "" "00006" "{PMID:Jain 2022:34916228}" "" "M" "" "" "" "0" "" "" "Arab" "P6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00418519" "00351" "00418520" "00351" "00418521" "00351" "00418522" "00351" "00418523" "00351" "00418524" "00351" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00351 ## Count = 6 "{{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}}" "0000309855" "00351" "00418519" "00006" "Isolated (sporadic)" "" "see paper; ..., hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000309856" "00351" "00418520" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000309857" "00351" "00418521" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000309858" "00351" "00418522" "00006" "Unknown" "" "see paper; ..., obstructive hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000309859" "00351" "00418523" "00006" "Unknown" "" "see paper; ..., hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000309860" "00351" "00418524" "00006" "Unknown" "" "see paper; ..., hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ## 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}}" "0000419814" "00418519" "1" "00006" "00006" "2022-09-29 16:23:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419815" "00418520" "1" "00006" "00006" "2022-09-29 16:23:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419816" "00418521" "1" "00006" "00006" "2022-09-29 16:23:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419817" "00418522" "1" "00006" "00006" "2022-09-29 16:23:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419818" "00418523" "1" "00006" "00006" "2022-09-29 16:23:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419819" "00418524" "1" "00006" "00006" "2022-09-29 16:23:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "0000254601" "0" "30" "17" "58012604" "58012604" "subst" "0" "01943" "RPS6KB1_000001" "g.58012604A>G" "" "" "" "RPS6KB1(NM_001272044.1):c.762A>G (p.K254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59935243A>G" "" "likely benign" "" "0000879982" "0" "70" "17" "57970684" "57970684" "subst" "0" "00006" "RPS6KB1_000003" "g.57970684G>T" "" "{PMID:Jain 2022:34916228}" "" "" "" "De novo" "" "" "0" "" "" "g.59893323G>T" "" "likely pathogenic" "" "0000879983" "11" "70" "17" "57970684" "57970684" "subst" "0" "00006" "RPS6KB1_000003" "g.57970684G>T" "" "{PMID:Jain 2022:34916228}" "" "" "" "Germline" "yes" "" "0" "" "" "g.59893323G>T" "" "likely pathogenic" "" "0000879984" "11" "70" "17" "57970684" "57970684" "subst" "0" "00006" "RPS6KB1_000003" "g.57970684G>T" "" "{PMID:Jain 2022:34916228}" "" "" "" "Germline" "yes" "" "0" "" "" "g.59893323G>T" "" "likely pathogenic" "" "0000879985" "0" "70" "17" "57987926" "57987926" "subst" "0" "00006" "RPS6KB1_000004" "g.57987926C>A" "" "{PMID:Jain 2022:34916228}" "" "" "" "Germline" "" "" "0" "" "" "g.59910565C>A" "" "likely pathogenic" "" "0000879986" "0" "70" "17" "57987965" "57987965" "subst" "0" "00006" "RPS6KB1_000005" "g.57987965T>C" "" "{PMID:Jain 2022:34916228}" "" "" "" "Germline" "" "" "0" "" "" "g.59910604T>C" "" "likely pathogenic" "" "0000879987" "0" "70" "17" "58022872" "58022872" "subst" "0.000232742" "00006" "RPS6KB1_000006" "g.58022872C>T" "" "{PMID:Jain 2022:34916228}" "" "" "" "Germline" "" "" "0" "" "" "g.59945511C>T" "" "likely pathogenic" "" ## 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 RPS6KB1 ## 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}}" "0000254601" "00018179" "30" "921" "0" "921" "0" "c.921A>G" "r.(?)" "p.(Lys307=)" "" "0000879982" "00018179" "70" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Gly47Trp)" "" "0000879983" "00018179" "70" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Gly47Trp)" "" "0000879984" "00018179" "70" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Gly47Trp)" "" "0000879985" "00018179" "70" "145" "0" "145" "0" "c.145C>A" "r.(?)" "p.(Gln49Lys)" "" "0000879986" "00018179" "70" "184" "0" "184" "0" "c.184T>C" "r.(?)" "p.(Tyr62His)" "" "0000879987" "00018179" "70" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Pro445Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000419814" "0000879982" "0000419815" "0000879983" "0000419816" "0000879984" "0000419817" "0000879985" "0000419818" "0000879986" "0000419819" "0000879987"