### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNASEL) # 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}}" "RNASEL" "ribonuclease L (2\',5\'-oligoisoadenylate synthetase-dependent)" "1" "q25" "unknown" "NG_009024.2" "UD_132084420221" "" "https://www.LOVD.nl/RNASEL" "" "1" "10050" "6041" "180435" "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/RNASEL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-20 19:29:30" "00000" "2026-01-20 18:57:21" ## 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}}" "00017854" "RNASEL" "ribonuclease L (2\',5\'-oligoisoadenylate synthetase-dependent)" "001" "NM_021133.3" "" "NP_066956.1" "" "" "" "-257" "3984" "2226" "182558394" "182542769" "" "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}}" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "02368" "HPC1" "cancer, prostate, hereditary, type 1 (HPC-1)" "AD" "601518" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RNASEL" "02368" ## 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}}" "00103992" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-025A" "00248221" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00103992" "03381" "00248221" "00318" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00318, 02368, 03381 ## 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}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081926" "03381" "00103992" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000187230" "00318" "00248221" "01474" "Unknown" "" "61y ductal breast cancer, subtype basal" "61y" "" "" "" "" "" "" "" "breast cancer" "" ## 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}}" "0000104463" "00103992" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000249326" "00248221" "1" "01474" "00006" "2015-12-04 13:41:45" "00006" "2019-07-20 19:30:59" "SEQ-NG-S" "DNA" "blood" "581 gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000249326" "RNASEL" ## 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}}" "0000169257" "0" "70" "1" "182555646" "182555646" "subst" "0" "00587" "RNASEL_000001" "g.182555646G>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_021133.3(RNASEL):c.296C>A p.(Ala99Glu)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.182586511G>T" "" "likely pathogenic" "" "0000578160" "0" "70" "1" "182555149" "182555149" "subst" "0.00364446" "00006" "RNASEL_000002" "g.182555149C>A" "" "{PMID:Lhota 2016:26822949}" "" "E265*" "" "Germline" "" "rs74315364" "0" "" "" "g.182586014C>A" "" "VUS" "" "0000717021" "0" "50" "1" "182555149" "182555149" "subst" "0.00364446" "01943" "RNASEL_000002" "g.182555149C>A" "" "" "" "RNASEL(NM_021133.3):c.793G>T (p.E265*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882966" "0" "10" "1" "182555588" "182555588" "subst" "0.00225804" "02326" "RNASEL_000003" "g.182555588G>A" "" "" "" "RNASEL(NM_021133.4):c.354C>T (p.V118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928075" "0" "70" "1" "182555754" "182555754" "del" "1.22385E-5" "02327" "RNASEL_000004" "g.182555754del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000990604" "0" "50" "1" "182554914" "182554914" "dup" "0" "01804" "RNASEL_000005" "g.182554914dup" "" "" "" "RNASEL(NM_021133.3):c.1033dupG (p.(Ala345fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063223" "0" "50" "1" "182555149" "182555149" "subst" "0.00364446" "02325" "RNASEL_000002" "g.182555149C>A" "" "" "" "RNASEL(NM_021133.3):c.793G>T (p.E265*)" "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 RNASEL ## 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}}" "0000169257" "00017854" "00" "296" "0" "296" "0" "c.296C>A" "r.(?)" "p.(Ala99Glu)" "" "0000578160" "00017854" "70" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Glu265*)" "" "0000717021" "00017854" "50" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Glu265*)" "" "0000882966" "00017854" "10" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Val118=)" "" "0000928075" "00017854" "70" "188" "0" "188" "0" "c.188del" "r.(?)" "p.(Leu63Argfs*7)" "" "0000990604" "00017854" "50" "1033" "0" "1033" "0" "c.1033dup" "r.(?)" "p.(Ala345Glyfs*22)" "" "0001063223" "00017854" "50" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Glu265*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000104463" "0000169257" "0000249326" "0000578160"