### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TIA1) # 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}}" "TIA1" "TIA1 cytotoxic granule-associated RNA binding protein" "2" "p13" "unknown" "NG_029967.1" "UD_132377002798" "" "http://www.LOVD.nl/TIA1" "" "1" "11802" "7072" "603518" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TIA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2013-01-07 00:00:00" "00006" "2015-10-24 14:32:07" "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}}" "00001784" "TIA1" "transcript variant 2" "002" "NM_022173.2" "" "NP_071505.2" "" "" "" "-217" "4436" "1161" "70475779" "70436576" "00008" "2013-01-07 09:38:45" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00109" "WDM" "myopathy, distal, Welander (WDM)" "AD;AR" "604454" "" "" "" "00001" "2013-01-29 13:42:56" "00006" "2021-12-10 21:51:32" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "06998" "ALS26" "sclerosis, lateral, amyotrophic, with/without frontotemporal dementia, type 26" "AD" "619133" "" "" "" "00006" "2023-01-21 16:45:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TIA1" "00109" "TIA1" "06998" ## 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}}" "00000354" "" "" "" "46" "" "00048" "" "" "" "" "" "" "" "" "" "" "" "00052406" "" "" "" "1" "" "01423" "" "sister has early onset distal leg weakness, both siblings also have TIA1 p.(Glu384Lys) het variant" "F" "no" "" "" "0" "" "" "Swedish, Greek" "" "00289142" "" "" "" "1" "" "00006" "{PMID:Evilä 2016:26627873}" "" "" "" "France" "" "0" "" "" "" "P11" "00289143" "" "" "" "1" "" "00006" "{PMID:Evilä 2016:26627873}" "" "" "" "Australia" "" "0" "" "" "" "P12" "00430668" "" "" "" "2" "" "00006" "{PMID:Granger 2022:36628841}" "2-generation family, 2 affected sisters" "F" "" "United States" "" "0" "" "" "" "Pat3" "00430669" "" "" "00430668" "1" "" "00006" "{PMID:Granger 2022:36628841}" "sister" "F" "" "United States" "" "0" "" "" "" "FamPat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000354" "00109" "00052406" "00351" "00289142" "00244" "00289143" "00244" "00430668" "00244" "00430669" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00109, 00244, 00351, 06998 ## Count = 5 "{{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}}" "0000038980" "00351" "00052406" "01423" "Unknown" "" "supraventricular tachycardia, distal leg weakness" "" "" "" "" "" "" "" "" "" "0000222775" "00244" "00289142" "00006" "Unknown" "" "distal rimmed vacuolar myopathy" "" "" "" "" "" "" "" "" "myopathy" "0000222776" "00244" "00289143" "00006" "Unknown" "" "scapuloperoneal rimmed vacuolar" "" "" "" "" "" "" "" "" "myopathy" "0000321443" "00244" "00430668" "00006" "Unknown" "67y" "distal weakness; nornal CK level; electrodiagnosis myopathic with fibrillation potentials, myotonic discharges; muscle biopsy myopathy, rare rimmed vacuoles, minicores, congophilic inclusions" "" "" "" "" "" "" "" "WDM; MPD1;CMH1" "myotonic dystrophy" "0000321444" "00244" "00430669" "00006" "Unknown" "66y" "distal weakness, hypertrophic cardiomyopathy; nornal CK level" "" "" "" "" "" "" "" "WDM; MPD1;CMH1" "myotonic dystrophy" ## 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}}" "0000000369" "00000354" "1" "00048" "00048" "2013-01-08 12:07:28" "" "" "SEQ-NG-S" "DNA" "" "" "0000052354" "00052406" "1" "01423" "01423" "2015-10-24 02:51:12" "00006" "2015-10-24 12:27:57" "SEQ-NG" "DNA" "" "" "0000290312" "00289142" "1" "00006" "00006" "2020-03-01 11:31:09" "" "" "SEQ;SEQ-NG" "DNA" "" "MyoCap 180 myopathy gene panel" "0000290313" "00289143" "1" "00006" "00006" "2020-03-01 11:31:09" "" "" "SEQ;SEQ-NG" "DNA" "" "MyoCap 180 myopathy gene panel" "0000432078" "00430668" "1" "00006" "00006" "2023-01-22 15:18:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432079" "00430669" "1" "00006" "00006" "2023-01-22 15:18:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000052354" "MYH7" "0000052354" "TIA1" "0000290312" "SQSTM1" "0000290312" "TIA1" "0000290313" "SQSTM1" "0000290313" "TIA1" ## 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 = 17 "{{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}}" "0000016956" "0" "75" "2" "70439862" "70439862" "subst" "4.06177E-5" "00048" "TIA1_000001" "g.70439862C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.70212730C>T" "" "likely pathogenic" "" "0000081798" "1" "50" "2" "70439862" "70439862" "subst" "4.06177E-5" "01423" "TIA1_000001" "g.70439862C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70212730C>T" "" "VUS" "" "0000316612" "0" "10" "2" "70441562" "70441562" "subst" "0.00660968" "01943" "TIA1_000002" "g.70441562T>C" "" "" "" "TIA1(NM_022037.2):c.920A>G (p.(Gln307Arg)), TIA1(NM_022173.3):c.953A>G (p.Q318R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70214430T>C" "" "benign" "" "0000516612" "0" "30" "2" "70441568" "70441568" "subst" "0.00154392" "01804" "TIA1_000003" "g.70441568G>C" "" "" "" "TIA1(NM_022037.2):c.914C>G (p.(Ala305Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70214436G>C" "" "likely benign" "" "0000516614" "0" "30" "2" "70463272" "70463272" "subst" "0" "01804" "TIA1_000005" "g.70463272G>C" "" "" "" "TIA1(NM_022037.2):c.62C>G (p.(Ala21Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70236140G>C" "" "likely benign" "" "0000646965" "1" "70" "2" "70439942" "70439942" "subst" "0.00671433" "00006" "TIA1_000006" "g.70439942T>C" "" "{PMID:Evilä 2016:26627873}" "" "" "possible di-genic inheritance" "Germline" "" "rs116621885" "0" "" "" "g.70212810T>C" "" "likely pathogenic (!)" "" "0000646967" "1" "70" "2" "70439942" "70439942" "subst" "0.00671433" "00006" "TIA1_000006" "g.70439942T>C" "" "{PMID:Evilä 2016:26627873}" "" "" "possible di-genic inheritance" "Germline" "" "rs116621885" "0" "" "" "g.70212810T>C" "" "likely pathogenic (!)" "" "0000688836" "0" "30" "2" "70439890" "70439890" "subst" "0.000893474" "02326" "TIA1_000007" "g.70439890C>T" "" "" "" "TIA1(NM_001351517.2):c.699G>A (p.Q233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718935" "0" "30" "2" "70441562" "70441562" "subst" "0.00660968" "01804" "TIA1_000002" "g.70441562T>C" "" "" "" "TIA1(NM_022037.2):c.920A>G (p.(Gln307Arg)), TIA1(NM_022173.3):c.953A>G (p.Q318R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718936" "0" "50" "2" "70442522" "70442522" "subst" "3.24992E-5" "01943" "TIA1_000008" "g.70442522A>G" "" "" "" "TIA1(NM_001351517.1):c.449T>C (p.M150T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718937" "0" "30" "2" "70457905" "70457905" "subst" "4.16938E-6" "01943" "TIA1_000009" "g.70457905G>T" "" "" "" "TIA1(NM_022173.3):c.205C>A (p.R69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885356" "0" "10" "2" "70439942" "70439942" "subst" "0.00671433" "01804" "TIA1_000006" "g.70439942T>C" "" "" "" "TIA1(NM_022037.2):c.1037A>G (p.(Asn346Ser)), TIA1(NM_022173.4):c.1070A>G (p.N357S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885357" "0" "30" "2" "70443518" "70443518" "subst" "0.0005771" "02326" "TIA1_000010" "g.70443518C>A" "" "" "" "TIA1(NM_022173.4):c.679+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885358" "0" "30" "2" "70463301" "70463301" "subst" "4.14735E-5" "02326" "TIA1_000011" "g.70463301G>A" "" "" "" "TIA1(NM_022173.4):c.33C>T (p.V11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917413" "1" "90" "2" "70439862" "70439862" "subst" "4.06177E-5" "00006" "TIA1_000001" "g.70439862C>T" "" "{PMID:Granger 2022:36628841}" "" "" "" "Germline" "" "" "0" "" "" "g.70212730C>T" "" "pathogenic (dominant)" "" "0000917414" "1" "90" "2" "70439862" "70439862" "subst" "4.06177E-5" "00006" "TIA1_000001" "g.70439862C>T" "" "{PMID:Granger 2022:36628841}" "" "" "" "Germline" "" "" "0" "" "" "g.70212730C>T" "" "pathogenic (dominant)" "" "0001024669" "0" "50" "2" "70439942" "70439942" "subst" "0.00671433" "02326" "TIA1_000006" "g.70439942T>C" "" "" "" "TIA1(NM_022037.2):c.1037A>G (p.(Asn346Ser)), TIA1(NM_022173.4):c.1070A>G (p.N357S)" "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 TIA1 ## Count = 17 "{{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}}" "0000016956" "00001784" "75" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Glu384Lys)" "12" "0000081798" "00001784" "50" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Glu384Lys)" "13" "0000316612" "00001784" "10" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Gln318Arg)" "" "0000516612" "00001784" "30" "947" "0" "947" "0" "c.947C>G" "r.(?)" "p.(Ala316Gly)" "" "0000516614" "00001784" "30" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ala21Gly)" "" "0000646965" "00001784" "70" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Asn357Ser)" "13" "0000646967" "00001784" "70" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Asn357Ser)" "13" "0000688836" "00001784" "30" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Gln374=)" "" "0000718935" "00001784" "30" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Gln318Arg)" "" "0000718936" "00001784" "50" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Met290Thr)" "" "0000718937" "00001784" "30" "205" "0" "205" "0" "c.205C>A" "r.(?)" "p.(Arg69=)" "" "0000885356" "00001784" "10" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Asn357Ser)" "" "0000885357" "00001784" "30" "679" "18" "679" "18" "c.679+18G>T" "r.(=)" "p.(=)" "" "0000885358" "00001784" "30" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Val11=)" "" "0000917413" "00001784" "90" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Glu384Lys)" "" "0000917414" "00001784" "90" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Glu384Lys)" "" "0001024669" "00001784" "50" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Asn357Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000000369" "0000016956" "0000052354" "0000081798" "0000290312" "0000646965" "0000290313" "0000646967" "0000432078" "0000917413" "0000432079" "0000917414"