### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TTC25) # 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}}" "TTC25" "tetratricopeptide repeat domain 25" "17" "q21.2" "unknown" "NG_053115.1" "UD_136020533445" "" "https://www.LOVD.nl/TTC25" "" "1" "25280" "83538" "617095" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-23 14:51:15" "00000" "2023-01-11 15:44:22" ## 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}}" "00022032" "TTC25" "tetratricopeptide repeat domain 25" "001" "NM_031421.2" "" "NP_113609.1" "" "" "" "-89" "1989" "1821" "40086888" "40117669" "" "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}}" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "06334" "CILD35" "Ciliary dyskinesia, primary, 35" "AR" "617092" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TTC25" "06334" ## 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}}" "00183329" "" "" "" "1" "" "02596" "" "" "" "" "" "" "0" "" "" "Tunisian" "16GM00070" "00183330" "" "" "" "1" "" "02596" "" "" "" "" "" "" "0" "" "" "Tunisian" "DCP1867" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00183329" "00332" "00183330" "00332" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00332, 06334 ## 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}}" "0000144067" "00332" "00183329" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000144068" "00332" "00183330" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000184290" "00183329" "1" "02596" "02596" "2018-10-23 00:43:42" "" "" "SEQ-NG" "DNA" "" "" "0000184291" "00183330" "1" "02596" "02596" "2018-10-23 00:48:02" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000184290" "TTC25" "0000184291" "TTC25" ## 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 = 6 "{{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}}" "0000408307" "3" "70" "17" "40094839" "40094841" "del" "0" "02596" "TTC25_000002" "g.40094839_40094841delinsTGTGGAGGACCTCATCCTCC" "2/28" "" "" "" "" "Germline" "" "" "0" "" "" "g.41938586_41938588delinsTGTGGAGGACCTCATCCTCC" "" "likely pathogenic" "" "0000408308" "3" "70" "17" "40094839" "40094841" "del" "0" "02596" "TTC25_000002" "g.40094839_40094841delinsTGTGGAGGACCTCATCCTCC" "2/28" "" "" "" "" "Germline" "" "" "0" "" "" "g.41938586_41938588delinsTGTGGAGGACCTCATCCTCC" "" "likely pathogenic" "" "0000561451" "0" "70" "17" "40093120" "40093120" "subst" "8.13484E-6" "02329" "TTC25_000003" "g.40093120C>T" "" "" "" "ODAD4(NM_031421.5):c.565C>T (p.Q189*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41936867C>T" "" "likely pathogenic" "" "0000561452" "0" "50" "17" "40095346" "40095346" "subst" "1.21911E-5" "01804" "TTC25_000005" "g.40095346G>A" "" "" "" "TTC25(NM_031421.2):c.979G>A (p.(Gly327Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41939093G>A" "" "VUS" "" "0000561453" "0" "70" "17" "40101477" "40101477" "subst" "2.47707E-5" "02329" "TTC25_000006" "g.40101477G>A" "" "" "" "ODAD4(NM_031421.5):c.1145+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41945223G>A" "" "likely pathogenic" "" "0000680855" "0" "50" "17" "40093123" "40093123" "subst" "0" "01804" "TTC25_000004" "g.40093123C>T" "" "" "" "TTC25(NM_031421.2):c.568C>T (p.(Leu190Phe))" "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 TTC25 ## Count = 6 "{{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}}" "0000408307" "00022032" "70" "655" "0" "657" "0" "c.655_657delinsTGTGGAGGACCTCATCCTCC" "r.(?)" "p.(Leu219Cysfs*14)" "6" "0000408308" "00022032" "70" "655" "0" "657" "0" "c.655_657delinsTGTGGAGGACCTCATCCTCC" "r.(?)" "p.(Leu219Cysfs*14)" "6" "0000561451" "00022032" "70" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Gln189Ter)" "" "0000561452" "00022032" "50" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Gly327Arg)" "" "0000561453" "00022032" "70" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Trp383Ter)" "" "0000680855" "00022032" "50" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Leu190Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000184290" "0000408307" "0000184291" "0000408308"