### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TARS)
# 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}}"
"TARS" "threonyl-tRNA synthetase" "5" "p13.2" "unknown" "NC_000005.9" "UD_136023393792" "" "https://www.LOVD.nl/TARS1" "" "1" "11572" "6897" "187790" "1" "1" "1" "1" "NOTE: gene name changed from TARS to TARS1\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "NOTE: gene name changed from TARS to TARS1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 14:43:50" "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}}"
"00020753" "TARS" "transcript variant 1" "004" "NM_152295.4" "" "NP_689508.3" "" "" "" "-311" "2555" "2172" "33440882" "33468196" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00748" "TTD" "trichothiodystrophy (TTD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-09-10 12:13:45"
"06682" "TTD7" "Trichothiodystrophy 7, nonphotosensitive" "AR" "618546" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"TARS" "06682"
## 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}}"
"00260778" "" "" "" "1" "" "00006" "{PMID:Theil 2019:31374204}, {DOI:Theil 2019:10.1016/j.ajhg.2019.06.017}" "" "" "no" "Italy" "" "0" "" "" "" "PatTTD18PV"
"00260779" "" "" "" "1" "" "00006" "{PMID:Theil 2019:31374204}, {DOI:Theil 2019:10.1016/j.ajhg.2019.06.017}" "" "F" "" "Netherlands" "" "0" "" "" "" "PatTTD5VI"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00260778" "00748"
"00260779" "00748"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00748, 06682
## 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}}"
"0000199310" "00748" "00260778" "00006" "Familial, autosomal recessive" "" "see paper; ..., hair fractures (trichoschisis), hair alternating light/dark banding pattern\r\n(tiger tail), no sun-sensitive skin, ichthyosis, follicular keratosis, delayed physical development, recurrent infections respiratory tract, acromandibular dysplasia" "" "" "" "" "" "" "" "TTD" "trichothiodystrophy"
"0000199311" "00748" "00260779" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormal structure hair shaft (tiger-tail) banding pattern, born encased in tight, shiny membrane (collodion baby), ichthyosis" "" "" "" "" "" "" "" "TTD" "trichothiodystrophy"
## 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}}"
"0000261883" "00260778" "1" "00006" "00006" "2019-08-06 21:36:48" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000261884" "00260779" "1" "00006" "00006" "2019-08-06 21:44:17" "" "" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000261883" "TARS"
"0000261884" "TARS"
## 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}}"
"0000592001" "1" "90" "5" "33456321" "33456321" "subst" "0" "00006" "TARS_000001" "g.33456321A>G" "" "{PMID:Theil 2019:31374204}, {DOI:Theil 2019:10.1016/j.ajhg.2019.06.017}" "" "" "" "Germline" "" "" "0" "" "" "g.33456216A>G" "" "pathogenic (recessive)" ""
"0000592002" "2" "90" "5" "33466979" "33466979" "subst" "1.30333E-5" "00006" "TARS_000002" "g.33466979C>T" "" "{PMID:Theil 2019:31374204}, {DOI:Theil 2019:10.1016/j.ajhg.2019.06.017}" "" "" "" "Germline" "" "" "0" "" "" "g.33466874C>T" "" "pathogenic (recessive)" ""
"0000592003" "3" "90" "5" "33455796" "33455796" "subst" "0" "00006" "TARS_000003" "g.33455796T>C" "" "{PMID:Theil 2019:31374204}, {DOI:Theil 2019:10.1016/j.ajhg.2019.06.017}" "" "" "" "Germline" "" "" "0" "" "" "g.33455691T>C" "" "pathogenic (recessive)" ""
"0000976775" "0" "30" "5" "33457501" "33457501" "subst" "0.00240676" "01804" "TARS_000004" "g.33457501T>C" "" "" "" "TARS(NM_152295.5):c.977T>C (p.(Ile326Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000976776" "0" "30" "5" "33461859" "33461859" "subst" "0.00206615" "01804" "TARS_000005" "g.33461859A>G" "" "" "" "TARS(NM_152295.5):c.1629+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000976777" "0" "50" "5" "33467707" "33467707" "subst" "0" "01804" "TARS_000006" "g.33467707G>T" "" "" "" "TARS(NM_152295.5):c.2066G>T (p.(Arg689Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035180" "0" "50" "5" "33461375" "33461375" "subst" "7.33909E-5" "01804" "TARS_000007" "g.33461375T>G" "" "" "" "TARS(NM_152295.5):c.1526T>G (p.(Ile509Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035181" "0" "50" "5" "33462104" "33462104" "subst" "4.06395E-6" "01804" "TARS_000008" "g.33462104T>A" "" "" "" "TARS(NM_152295.5):c.1723T>A (p.(Tyr575Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001051936" "0" "50" "5" "33463929" "33463929" "subst" "0.000917623" "01804" "TARS_000009" "g.33463929A>G" "" "" "" "TARS(NM_152295.5):c.1907A>G (p.(Lys636Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001064309" "0" "30" "5" "33459895" "33459895" "subst" "0.000255902" "01804" "TARS_000010" "g.33459895C>T" "" "" "" "TARS(NM_152295.5):c.1179C>T (p.(Ser393=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 TARS
## 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}}"
"0000592001" "00020753" "90" "826" "0" "826" "0" "c.826A>G" "r.(?)" "p.(Lys276Glu)" ""
"0000592002" "00020753" "90" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Arg638*)" ""
"0000592003" "00020753" "90" "680" "0" "680" "0" "c.680T>C" "r.(?)" "p.(Leu227Pro)" ""
"0000976775" "00020753" "30" "977" "0" "977" "0" "c.977T>C" "r.(?)" "p.(Ile326Thr)" ""
"0000976776" "00020753" "30" "1629" "10" "1629" "10" "c.1629+10A>G" "r.(=)" "p.(=)" ""
"0000976777" "00020753" "50" "2066" "0" "2066" "0" "c.2066G>T" "r.(?)" "p.(Arg689Leu)" ""
"0001035180" "00020753" "50" "1526" "0" "1526" "0" "c.1526T>G" "r.(?)" "p.(Ile509Ser)" ""
"0001035181" "00020753" "50" "1723" "0" "1723" "0" "c.1723T>A" "r.(?)" "p.(Tyr575Asn)" ""
"0001051936" "00020753" "50" "1907" "0" "1907" "0" "c.1907A>G" "r.(?)" "p.(Lys636Arg)" ""
"0001064309" "00020753" "30" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{variantid}}"
"0000261883" "0000592001"
"0000261883" "0000592002"
"0000261884" "0000592003"