### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-TM) # 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-TM" "mitochondrially encoded tRNA methionine" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7492" "4569" "590065" "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}}" "00001324" "MT-TM" "MT-TM-201" "000" "MT-TM-201" "ENST00000387377" "" "" "" "" "0" "0" "0" "4402" "4469" "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 = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00400" "CPEO,CPEO Plus" "MITOCHONDRIAL MYOPATHY: CPEO, CPEO \"Plus\" DOID:12558, Chronic progressive external ophthalmoplegia" "251900" "" "" "" "00001" "2014-03-27 15:39:09" "00001" "2014-03-27 15:45:13" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MT-TM" "00400" ## 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 = 8 "{{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}}" "0000001371" "0" "99" "M" "4409" "4409" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 06:18:00" "chrM_000016" "m.4409T>C" "" "{PMID:18835817:18835817};{PMID:9633749:9633749}" "" "rs118203884" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0001371" "" "0000004571" "0" "77" "M" "4410" "4410" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000577" "m.4410C>A" "" "" "" "" "subst" "0" "; Mitomap;" "3.550" "" "" "" "" "MSCV_0004571" "" "0000004572" "0" "77" "M" "4415" "4415" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-08-30 11:35:49" "chrM_000578" "m.4415A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004572" "" "0000004573" "0" "77" "M" "4435" "4435" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000579" "m.4435A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004573" "" "0000004574" "0" "77" "M" "4437" "4437" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001305" "m.4437C>T" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004574" "" "0000004575" "0" "77" "M" "4450" "4450" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001306" "m.4450G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004575" "" "0000004576" "0" "77" "M" "4454" "4454" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-06 11:35:57" "chrM_001307" "m.4454T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-7.520" "" "" "" "" "MSCV_0004576" "" "0000004577" "0" "77" "M" "4456" "4456" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-06 15:03:02" "chrM_001308" "m.4456C>T" "" "" "" "" "subst" "0" "; Mitomap;" "-9.060" "" "" "" "" "MSCV_0004577" "" ## 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 = 8 "{{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}}" "0000001371" "00001324" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004571" "00001324" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004572" "00001324" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004573" "00001324" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004574" "00001324" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004575" "00001324" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004576" "00001324" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004577" "00001324" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0