### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OAS1) # 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}}" "OAS1" "2\'-5\'-oligoadenylate synthetase 1, 40/46kDa" "12" "q24.2" "unknown" "NG_011530.2" "UD_132118804134" "" "https://www.LOVD.nl/OAS1" "" "1" "8086" "4938" "164350" "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/OAS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-24 19:32:23" "00000" "2025-02-07 18:57:27" ## 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}}" "00025263" "OAS1" "transcript variant 1" "001" "NM_016816.2" "" "NP_058132.2" "" "" "" "-106" "1557" "1203" "113344739" "113357712" "00006" "2018-03-24 19:34:26" "" "" ## 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}}" "00150" "IDDM" "diabetes mellitus, insulin-dependent (IDDM)" "AR" "222100" "" "" "" "00001" "2013-06-14 15:55:22" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00309" "MLRS" "malaria, susceptibility to" "" "611162" "" "" "" "00006" "2014-01-24 11:34:13" "00006" "2021-12-14 08:45:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "OAS1" "00150" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00155731" "" "" "" "3" "" "00006" "{PMID:Cho 2018:29455859}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F;M" "no" "Japan" "" "0" "" "" "" "29455859-FamA" "00155732" "" "" "" "1" "" "00006" "{PMID:Cho 2018:29455859}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Japan" "03y" "0" "" "" "" "29455859-FamB" "00155733" "" "" "" "1" "" "00006" "{PMID:Cho 2018:29455859}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Japan" ">02y" "0" "" "" "" "29455859-FamC" "00400054" "" "" "" "1" "" "04149" "" "" "M" "no" "Nigeria" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00155731" "00198" "00155732" "00198" "00155733" "00198" "00400054" "00309" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00150, 00198, 00309 ## Count = 4 "{{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}}" "0000128113" "00198" "00155731" "00006" "Isolated (sporadic)" "" "see paper; ..., infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia; all 3 died of respiratory failure" "" "" "" "" "" "" "" "" "" "" "" "0000128114" "00198" "00155732" "00006" "Isolated (sporadic)" "" "see paper; ..., infantile-onset pulmonary alveolar proteinosis with hypogammaglobulinemia; 3y-died renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000128115" "00198" "00155733" "00006" "Isolated (sporadic)" "01y07m" "see paper; ..., infantile-onset pulmonary alveolar proteinosis with hypogammaglobulinemia" "" "" "" "" "" "" "" "" "" "" "" "0000293095" "00309" "00400054" "04149" "-" "03y10m" "fever (HP:0001945), headache (HP:0002315), Nausea and vomiting (HP:0002017), Respiratory distress (HP:0002098)" "" "03y10m" "fever (HP:0001945)" "" "" "" "" "" "malaria" "malaria" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156595" "00155731" "1" "00006" "00006" "2018-03-24 19:47:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000156596" "00155732" "1" "00006" "00006" "2018-03-24 19:55:39" "" "" "SEQ" "DNA" "" "" "0000156597" "00155733" "1" "00006" "00006" "2018-03-24 20:00:02" "" "" "SEQ" "DNA" "" "" "0000401445" "00400054" "1" "04149" "04149" "2022-01-25 14:31:34" "" "" "PCRdig" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000156595" "OAS1" "0000156596" "OAS1" "0000156597" "OAS1" "0000401445" "OAS1" ## 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 = 24 "{{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}}" "0000359635" "21" "90" "12" "113346387" "113346387" "subst" "0" "00006" "OAS1_000001" "g.113346387C>T" "" "{PMID:Cho 2018:29455859}" "" "" "all three affecteds have the same de novo variant (0.04 in mother)" "De novo" "yes" "" "0" "" "" "g.112908582C>T" "" "pathogenic" "" "0000359636" "0" "90" "12" "113346486" "113346486" "subst" "0" "00006" "OAS1_000002" "g.113346486G>A" "" "{PMID:Cho 2018:29455859}" "" "" "" "De novo" "" "" "0" "" "" "g.112908681G>A" "" "pathogenic" "" "0000359637" "0" "70" "12" "113348978" "113348978" "subst" "0" "00006" "OAS1_000003" "g.113348978C>G" "" "{PMID:Cho 2018:29455859}" "" "" "" "De novo" "" "" "0" "" "" "g.112911173C>G" "" "likely pathogenic" "" "0000546666" "0" "50" "12" "113345007" "113345007" "subst" "6.91214E-5" "01943" "OAS1_000004" "g.113345007G>A" "" "" "" "OAS1(NM_016816.3):c.163G>A (p.V55M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112907202G>A" "" "VUS" "" "0000691253" "0" "30" "12" "113355411" "113355411" "subst" "0" "01943" "OAS1_000005" "g.113355411G>A" "" "" "" "OAS1(NM_016816.3):c.944G>A (p.G315D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723844" "0" "50" "12" "113354369" "113354369" "subst" "2.43736E-5" "01943" "OAS1_000006" "g.113354369T>C" "" "" "" "OAS1(NM_016816.3):c.710T>C (p.V237A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723845" "0" "50" "12" "113355426" "113355426" "subst" "1.62493E-5" "01943" "OAS1_000007" "g.113355426C>T" "" "" "" "OAS1(NM_016816.3):c.959C>T (p.A320V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805537" "0" "30" "12" "113348850" "113348850" "subst" "0.00110485" "01943" "OAS1_000008" "g.113348850G>A" "" "" "" "OAS1(NM_001320151.2):c.470-6G>A, OAS1(NM_016816.3):c.470-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805538" "0" "30" "12" "113354535" "113354535" "subst" "0.000134681" "01943" "OAS1_000009" "g.113354535G>A" "" "" "" "OAS1(NM_001320151.2):c.876G>A (p.T292=), OAS1(NM_016816.3):c.876G>A (p.T292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805539" "0" "50" "12" "113355393" "113355393" "subst" "0.0001625" "01943" "OAS1_000010" "g.113355393G>A" "" "" "" "OAS1(NM_016816.3):c.926G>A (p.G309D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000834712" "0" "70" "12" "113357193" "113357193" "subst" "0.672542" "04149" "OAS1_000011" "g.113357193G>A" "" "" "" "" "" "Germline" "" "rs10774671" "0" "" "" "g.112919388G>A" "" "likely pathogenic" "" "0000853278" "0" "30" "12" "113357252" "113357252" "subst" "0" "02326" "OAS1_000012" "g.113357252G>T" "" "" "" "OAS1(NM_016816.4):c.1097G>T (p.G366V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853279" "0" "50" "12" "113357295" "113357295" "subst" "3.65877E-5" "01943" "OAS1_000013" "g.113357295C>T" "" "" "" "OAS1(NM_001032409.2):c.1042C>T (p.Q348*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890284" "0" "30" "12" "113346588" "113346588" "subst" "0.00073023" "02326" "OAS1_000014" "g.113346588A>G" "" "" "" "OAS1(NM_001320151.2):c.428A>G (p.E143G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890285" "0" "30" "12" "113354535" "113354535" "subst" "0.000134681" "02326" "OAS1_000009" "g.113354535G>A" "" "" "" "OAS1(NM_001320151.2):c.876G>A (p.T292=), OAS1(NM_016816.3):c.876G>A (p.T292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890286" "0" "30" "12" "113355357" "113355357" "subst" "0.000345453" "02325" "OAS1_000015" "g.113355357T>G" "" "" "" "OAS1(NM_016816.4):c.890T>G (p.V297G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890287" "0" "30" "12" "113357202" "113357202" "subst" "0.0046244" "02326" "OAS1_000016" "g.113357202C>T" "" "" "" "OAS1(NM_016816.4):c.1047C>T (p.S349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930019" "0" "30" "12" "113357307" "113357307" "subst" "0.00234589" "02326" "OAS1_000017" "g.113357307G>A" "" "" "" "OAS1(NM_001032409.3):c.1054G>A (p.G352S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949849" "0" "30" "12" "113348850" "113348850" "subst" "0.00110485" "02326" "OAS1_000008" "g.113348850G>A" "" "" "" "OAS1(NM_001320151.2):c.470-6G>A, OAS1(NM_016816.3):c.470-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949850" "0" "30" "12" "113349067" "113349067" "subst" "3.50158E-5" "02325" "OAS1_000018" "g.113349067G>T" "" "" "" "OAS1(NM_016816.4):c.654+27G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966727" "0" "30" "12" "113344983" "113344983" "subst" "0.000162493" "02326" "OAS1_000019" "g.113344983C>T" "" "" "" "OAS1(NM_001320151.2):c.139C>T (p.R47*), OAS1(NM_016816.4):c.139C>T (p.R47*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966728" "0" "50" "12" "113355485" "113355485" "subst" "0" "02325" "OAS1_000020" "g.113355485G>T" "" "" "" "OAS1(NM_016816.4):c.1018G>T (p.V340L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999650" "0" "30" "12" "113354419" "113354419" "subst" "0.000816376" "01804" "OAS1_000021" "g.113354419G>A" "" "" "" "OAS1(NM_016816.2):c.760G>A (p.(Gly254Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026106" "0" "50" "12" "113344983" "113344983" "subst" "0.000162493" "02325" "OAS1_000019" "g.113344983C>T" "" "" "" "OAS1(NM_001320151.2):c.139C>T (p.R47*), OAS1(NM_016816.4):c.139C>T (p.R47*)" "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 OAS1 ## Count = 24 "{{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}}" "0000359635" "00025263" "90" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Ala76Val)" "" "0000359636" "00025263" "90" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Cys109Tyr)" "" "0000359637" "00025263" "70" "592" "0" "592" "0" "c.592C>G" "r.(?)" "p.(Leu198Val)" "" "0000546666" "00025263" "50" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Val55Met)" "" "0000691253" "00025263" "30" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Gly315Asp)" "" "0000723844" "00025263" "50" "710" "0" "710" "0" "c.710T>C" "r.(?)" "p.(Val237Ala)" "" "0000723845" "00025263" "50" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ala320Val)" "" "0000805537" "00025263" "30" "470" "-6" "470" "-6" "c.470-6G>A" "r.(=)" "p.(=)" "" "0000805538" "00025263" "30" "876" "0" "876" "0" "c.876G>A" "r.(?)" "p.(Thr292=)" "" "0000805539" "00025263" "50" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Gly309Asp)" "" "0000834712" "00025263" "70" "1039" "-1" "1039" "-1" "c.1039-1G>A" "r.spl" "p.?" "" "0000853278" "00025263" "30" "1097" "0" "1097" "0" "c.1097G>T" "r.(?)" "p.(Gly366Val)" "" "0000853279" "00025263" "50" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Pro380=)" "" "0000890284" "00025263" "30" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(Glu143Gly)" "" "0000890285" "00025263" "30" "876" "0" "876" "0" "c.876G>A" "r.(?)" "p.(Thr292=)" "" "0000890286" "00025263" "30" "890" "0" "890" "0" "c.890T>G" "r.(?)" "p.(Val297Gly)" "" "0000890287" "00025263" "30" "1047" "0" "1047" "0" "c.1047C>T" "r.(?)" "p.(Ser349=)" "" "0000930019" "00025263" "30" "1152" "0" "1152" "0" "c.1152G>A" "r.(?)" "p.(=)" "" "0000949849" "00025263" "30" "470" "-6" "470" "-6" "c.470-6G>A" "r.(=)" "p.(=)" "" "0000949850" "00025263" "30" "654" "27" "654" "27" "c.654+27G>T" "r.(=)" "p.(=)" "" "0000966727" "00025263" "30" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47*)" "" "0000966728" "00025263" "50" "1018" "0" "1018" "0" "c.1018G>T" "r.(?)" "p.(Val340Leu)" "" "0000999650" "00025263" "30" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Gly254Arg)" "" "0001026106" "00025263" "50" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000156595" "0000359635" "0000156596" "0000359636" "0000156597" "0000359637" "0000401445" "0000834712"