### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-TE) # 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-TE" "mitochondrially encoded tRNA glutamic acid" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7479" "4556" "590025" "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}}" "00001349" "MT-TE" "MT-TE-201" "000" "MT-TE-201" "ENST00000387459" "" "" "" "" "0" "0" "0" "14674" "14742" "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 = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00146" "500002" "MITOCHONDRIAL MYOPATHY WITH DIABETES" "500002" "" "" "" "00001" "2013-11-16 09:42:41" "00001" "2013-11-16 09:44:31" "" "00158" "MMIT" "MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT;MMIT" "500009" "" "" "" "00001" "2013-11-12 14:00:00" "00001" "2014-03-27 16:57:15" "" "00165" "MIDD" "DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD" "520000" "" "" "" "00001" "2013-11-12 14:00:00" "00001" "2014-03-27 17:03:57" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MT-TE" "00146" "MT-TE" "00158" "MT-TE" "00165" ## 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 = 12 "{{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}}" "0000001501" "0" "99" "M" "14674" "14674" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 15:17:48" "chrM_000038" "m.14674T>C" "" "{PMID:21931168:21931168};{PMID:19720722:19720722};{PMID:21194154:21194154}" "" "rs387906421" "subst" "0" "; clinVar; Mitomap; ensembl;" "-8.300" "" "" "" "" "MSCV_0001501" "" "0000001502" "0" "99" "M" "14674" "14674" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-08-30 10:28:14" "chrM_000039" "m.14674T>G" "" "{PMID:21931168:21931168};{PMID:19720722:19720722};{PMID:21194154:21194154}" "" "rs387906421" "subst" "0" "; clinvar; ensembl;" "-8.300" "" "" "" "" "MSCV_0001502" "" "0000001503" "0" "99" "M" "14709" "14709" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-11-09 18:16:05" "chrM_000040" "m.14709T>C" "" "{PMID:12393175:12393175};{PMID:7726154:7726154};{PMID:11437868:11437868};{PMID:15048886:15048886};{PMID:7726155:7726155};{PMID:10392369:10392369};{PMID:9353617:9353617};{PMID:4114165:4114165}" "" "rs121434453" "subst" "0" "; clinVar; Mitomap; Ensembl;" "2.100" "" "" "" "" "MSCV_0001503" "" "0000004065" "0" "77" "M" "14680" "14680" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 15:07:49" "chrM_000440" "m.14680C>A" "" "" "" "" "subst" "0" "; Mitomap;" "-3.110" "" "" "" "" "MSCV_0004065" "" "0000004066" "0" "77" "M" "14687" "14687" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 12:21:34" "chrM_000441" "m.14687A>G" "" "" "" "rs200189658" "subst" "0" "; Mitomap;" "1.240" "" "" "" "" "MSCV_0004066" "" "0000004067" "0" "77" "M" "14692" "14692" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-06-07 03:31:15" "chrM_000442" "m.14692A>G" "" "" "" "" "subst" "0" "; Mitomap;" "-1.490" "" "" "" "" "MSCV_0004067" "" "0000004068" "0" "77" "M" "14693" "14693" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 16:59:37" "chrM_000443" "m.14693A>G" "" "" "" "" "subst" "0" "; Mitomap;" "1.050" "" "" "" "" "MSCV_0004068" "" "0000004069" "0" "77" "M" "14696" "14696" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-06-28 13:42:42" "chrM_000444" "m.14696A>G" "" "" "" "" "subst" "0" "; Mitomap;" "-0.174" "" "" "" "" "MSCV_0004069" "" "0000004072" "0" "77" "M" "14710" "14710" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 18:49:29" "chrM_000445" "m.14710G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.150" "" "" "" "" "MSCV_0004072" "" "0000004073" "0" "77" "M" "14723" "14723" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 15:37:11" "chrM_000446" "m.14723T>C" "" "" "" "" "subst" "0" "; Mitomap;" "4.150" "" "" "" "" "MSCV_0004073" "" "0000004074" "0" "77" "M" "14724" "14724" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 16:37:42" "chrM_000447" "m.14724G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.150" "" "" "" "" "MSCV_0004074" "" "0000004075" "0" "77" "M" "14739" "14739" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 16:37:13" "chrM_000448" "m.14739G>A" "" "" "" "" "subst" "0" "; Mitomap;" "-2.980" "" "" "" "" "MSCV_0004075" "" ## 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 = 12 "{{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}}" "0000001501" "00001349" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001502" "00001349" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001503" "00001349" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004065" "00001349" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004066" "00001349" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004067" "00001349" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004068" "00001349" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004069" "00001349" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004072" "00001349" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004073" "00001349" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004074" "00001349" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004075" "00001349" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0