### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-TW) # 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-TW" "mitochondrially encoded tRNA tryptophan" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7501" "4578" "590095" "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}}" "00001326" "MT-TW" "MT-TW-201" "000" "MT-TW-201" "ENST00000387382" "" "" "" "" "0" "0" "0" "5512" "5579" "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-TW" "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 = 16 "{{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}}" "0000001378" "0" "99" "M" "5521" "5521" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-05-14 19:37:49" "chrM_000023" "m.5521G>A" "" "{PMID:9673981:9673981}" "" "rs199474673" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.170" "" "" "" "" "MSCV_0001378" "" "0000001379" "0" "99" "M" "5532" "5532" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-13 20:59:56" "chrM_000024" "m.5532G>A" "" "{PMID:15054399:15054399}" "" "rs199474674" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.260" "" "" "" "" "MSCV_0001379" "" "0000001380" "0" "99" "M" "5537" "5538" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-10 19:15:07" "chrM_000025" "m.5537_5538insT" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0001380" "" "0000001381" "0" "99" "M" "5545" "5545" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000209" "m.5545C>T" "" "{PMID:18337306:18337306}" "" "rs387906418" "subst" "0" "; clinVar; Mitomap; ensembl;" "4.080" "" "" "" "" "MSCV_0001381" "" "0000001382" "0" "99" "M" "5549" "5549" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-06-19 08:37:58" "chrM_000210" "m.5549G>A" "" "{PMID:7695240:7695240}" "" "rs199474671" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.360" "" "" "" "" "MSCV_0001382" "" "0000001383" "0" "99" "M" "5556" "5556" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000211" "m.5556G>A" "" "{PMID:19809478:19809478}" "" "rs387906736" "subst" "0" "; clinVar; Mitomap; ensembl;" "4.360" "" "" "" "" "MSCV_0001383" "" "0000004639" "0" "77" "M" "5514" "5514" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 22:51:42" "chrM_001290" "m.5514A>G" "" "" "" "" "subst" "0" "; Mitomap;" "-3.630" "" "" "" "" "MSCV_0004639" "" "0000004641" "0" "99" "M" "5523" "5523" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-07-01 18:16:11" "chrM_000304" "m.5523T>G" "" "" "" "" "subst" "0" "; Mitomap;" "2.760" "" "" "" "" "MSCV_0004641" "" "0000004643" "0" "99" "M" "5537" "5538" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-02-04 03:48:05" "chrM_000306" "m.5537_5538insAG" "" "{PMID:12776230:12776230};{PMID:9266739:9266739}" "" "rs199474672" "ins" "0" "; clinVar; Mitomap;" "" "" "" "" "" "MSCV_0004643" "" "0000004645" "0" "77" "M" "5540" "5540" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-07 19:57:53" "chrM_000309" "m.5540G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.280" "" "" "" "" "MSCV_0004645" "" "0000004646" "0" "77" "M" "5541" "5541" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-26 11:43:17" "chrM_000310" "m.5541C>T" "" "" "" "" "subst" "0" "; Mitomap;" "5.090" "" "" "" "" "MSCV_0004646" "" "0000004647" "0" "77" "M" "5543" "5543" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000312" "m.5543T>C" "" "" "" "" "subst" "0" "; Mitomap;" "5.090" "" "" "" "" "MSCV_0004647" "" "0000004651" "0" "99" "M" "5556" "5556" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-06 14:23:18" "chrM_000315" "m.5556G>C" "" "{PMID:19809478:19809478}" "" "rs387906736" "subst" "0" "; clinVar; Mitomap; ensembl;" "4.360" "" "" "" "" "MSCV_0004651" "" "0000004652" "0" "99" "M" "5559" "5559" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000316" "m.5559A>G" "" "" "" "rs370471013" "subst" "0" "; Mitomap;" "0.940" "" "" "" "" "MSCV_0004652" "" "0000004653" "0" "77" "M" "5567" "5567" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-08-17 07:18:20" "chrM_000317" "m.5567T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-6.300" "" "" "" "" "MSCV_0004653" "" "0000004654" "0" "77" "M" "5568" "5568" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-25 00:07:54" "chrM_000319" "m.5568A>G" "" "" "" "rs200719361" "subst" "0" "; Mitomap;" "-0.571" "" "" "" "" "MSCV_0004654" "" ## 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 = 16 "{{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}}" "0000001378" "00001326" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001379" "00001326" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001380" "00001326" "00" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001381" "00001326" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001382" "00001326" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001383" "00001326" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004639" "00001326" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004641" "00001326" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004643" "00001326" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004645" "00001326" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004646" "00001326" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004647" "00001326" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004651" "00001326" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004652" "00001326" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004653" "00001326" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004654" "00001326" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0