### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-TK) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "MT-TK" "mitochondrially encoded tRNA lysine" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7489" "4566" "590060" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Mitochondria chromosome located genes from HGNC" "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "00000" "0000-00-00 00:00:00" "00000" "0000-00-00 00:00:00" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "{{iNote}}" "{{chrom}}" "00001335" "MT-TK" "MT-TK-201" "000" "MT-TK-201" "ENST00000387421" "" "" "" "" "0" "0" "0" "8295" "8364" "00001" "2013-11-15 15:00:00" "00000" "2015-03-12 15:00:00" "Manually imported from Ensembl Biomart" "M" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00026" "MTDPS1" "Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)" "603041" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00162" "MERRF" "MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME" "545000" "" "" "" "00001" "2013-11-12 14:00:00" "00001" "2014-03-27 16:17:15" "" "00163" "MELAS SYNDROME" "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687" "540000" "" "" "" "00001" "2013-11-12 14:00:00" "00001" "2014-03-27 16:07:57" "" "00165" "MIDD" "DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD" "520000" "" "" "" "00001" "2013-11-12 14:00:00" "00001" "2014-03-27 17:03:57" "" "00170" "556500" "PARKINSON DISEASE, MITOCHONDRIAL " "556500" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "MT-TK" "00026" "MT-TK" "00162" "MT-TK" "00163" "MT-TK" "00165" "MT-TK" "00170" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 23 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000001425" "0" "99" "M" "8296" "8296" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 11:05:02" "chrM_000191" "m.8296A>G" "" "{PMID:9571188:9571188}" "" "rs118192102" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-0.021" "" "" "" "" "MSCV_0001425" "" "0000001426" "0" "99" "M" "8313" "8313" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 14:05:21" "chrM_000192" "m.8313G>A" "" "{PMID:9380435:9380435}" "" "rs118192101" "subst" "0" "; clinVar; Mitomap; Ensembl;" "5.130" "" "" "" "" "MSCV_0001426" "" "0000001427" "0" "99" "M" "8342" "8342" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000193" "m.8342G>A" "" "{PMID:10220860:10220860}" "" "rs118192103" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-1.600" "" "" "" "" "MSCV_0001427" "" "0000001428" "0" "99" "M" "8344" "8344" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 11:05:02" "chrM_000194" "m.8344A>G" "" "{PMID:10699170:10699170};{PMID:1324294:1324294};{PMID:1463005:1463005};{PMID:1487239:1487239};{PMID:1661776:1661776};{PMID:1848674:1848674};{PMID:1899320:1899320};{PMID:1910341:1910341};{PMID:2112427:2112427};{PMID:8170567:8170567};{PMID:8447321:8447321};" "" "rs118192098" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-9.420" "" "" "" "" "MSCV_0001428" "" "0000001429" "0" "99" "M" "8344" "8344" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-13 20:59:56" "chrM_000195" "m.8344A>T" "" "{PMID:10699170:10699170};{PMID:1324294:1324294};{PMID:1463005:1463005};{PMID:1487239:1487239};{PMID:1661776:1661776};{PMID:1848674:1848674};{PMID:1899320:1899320};{PMID:1910341:1910341};{PMID:2112427:2112427};{PMID:8170567:8170567};{PMID:8447321:8447321};" "" "rs118192098" "subst" "0" "; clinvar; ensembl;" "-9.420" "" "" "" "" "MSCV_0001429" "" "0000001430" "0" "99" "M" "8356" "8356" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 11:05:03" "chrM_000196" "m.8356T>C" "" "{PMID:20610441:20610441};{PMID:1361099:1361099};{PMID:8069654:8069654}" "" "rs118192099" "subst" "0" "; clinVar; Mitomap; Ensembl;" "3.060" "" "" "" "" "MSCV_0001430" "" "0000001431" "0" "99" "M" "8361" "8361" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-22 04:51:07" "chrM_000197" "m.8361G>A" "" "{PMID:14681892:14681892}" "" "rs118192104" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-6.420" "" "" "" "" "MSCV_0001431" "" "0000001432" "0" "99" "M" "8363" "8363" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 11:05:03" "chrM_000198" "m.8363G>A" "" "{PMID:11108511:11108511};{PMID:8651277:8651277}" "" "rs118192100" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.180" "" "" "" "" "MSCV_0001432" "" "0000004875" "0" "77" "M" "8302" "8302" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000660" "m.8302A>T" "" "" "" "" "subst" "0" "; Mitomap;" "3.760" "" "" "" "" "MSCV_0004875" "" "0000004876" "0" "77" "M" "8304" "8304" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000661" "m.8304G>A" "" "" "" "" "subst" "0" "; Mitomap;" "5.130" "" "" "" "" "MSCV_0004876" "" "0000004877" "0" "77" "M" "8311" "8311" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-06-13 14:07:07" "chrM_000662" "m.8311T>C" "" "" "" "rs371589230" "subst" "0" "; Mitomap;" "-9.940" "" "" "" "" "MSCV_0004877" "" "0000004879" "0" "77" "M" "8316" "8316" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-06-16 11:32:53" "chrM_000663" "m.8316T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-1.100" "" "" "" "" "MSCV_0004879" "" "0000004880" "0" "77" "M" "8319" "8319" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000941" "m.8319A>G" "" "" "" "" "subst" "0" "; Mitomap;" "3.730" "" "" "" "" "MSCV_0004880" "" "0000004881" "0" "77" "M" "8326" "8326" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000942" "m.8326A>G" "" "" "" "" "subst" "0" "; Mitomap;" "5.130" "" "" "" "" "MSCV_0004881" "" "0000004882" "0" "77" "M" "8328" "8328" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-07 19:02:36" "chrM_000943" "m.8328G>A" "" "" "" "" "subst" "0" "; Mitomap;" "5.130" "" "" "" "" "MSCV_0004882" "" "0000004883" "0" "77" "M" "8332" "8332" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-30 00:47:49" "chrM_000944" "m.8332A>G" "" "" "" "" "subst" "0" "; Mitomap;" "-2.830" "" "" "" "" "MSCV_0004883" "" "0000004884" "0" "77" "M" "8337" "8337" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000945" "m.8337T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-7.230" "" "" "" "" "MSCV_0004884" "" "0000004885" "0" "77" "M" "8340" "8340" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 11:05:02" "chrM_000946" "m.8340G>A" "" "" "" "" "subst" "0" "; Mitomap;" "2.150" "" "" "" "" "MSCV_0004885" "" "0000004887" "0" "77" "M" "8343" "8343" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-07-19 14:00:47" "chrM_000947" "m.8343A>G" "" "" "" "" "subst" "0" "; Mitomap;" "-9.420" "" "" "" "" "MSCV_0004887" "" "0000004890" "0" "77" "M" "8347" "8347" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-06-30 05:09:43" "chrM_000948" "m.8347A>G" "" "" "" "" "subst" "0" "; Mitomap;" "-3.840" "" "" "" "" "MSCV_0004890" "" "0000004891" "0" "77" "M" "8348" "8348" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000949" "m.8348A>G" "" "" "" "" "subst" "0" "; Mitomap;" "-6.120" "" "" "" "" "MSCV_0004891" "" "0000004892" "0" "77" "M" "8355" "8355" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-10-22 18:50:49" "chrM_000950" "m.8355T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-5.660" "" "" "" "" "MSCV_0004892" "" "0000004895" "0" "77" "M" "8362" "8362" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001329" "m.8362T>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.040" "" "" "" "" "MSCV_0004895" "" ## 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. ## Count = 23 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000001425" "00001335" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001426" "00001335" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001427" "00001335" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001428" "00001335" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001429" "00001335" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001430" "00001335" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001431" "00001335" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001432" "00001335" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004875" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004876" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004877" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004879" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004880" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004881" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004882" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004883" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004884" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004885" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004887" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004890" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004891" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004892" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004895" "00001335" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0