### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-TV) # 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-TV" "mitochondrially encoded tRNA valine" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7500" "4577" "590105" "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}}" "00001318" "MT-TV" "MT-TV-201" "000" "MT-TV-201" "ENST00000387342" "" "" "" "" "0" "0" "0" "1602" "1670" "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 = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "0000001324" "0" "99" "M" "1606" "1606" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-02-25 04:52:25" "chrM_000076" "m.1606G>A" "" "{PMID:12056939:12056939};{PMID:9450773:9450773}" "" "rs199476143" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-3.200" "" "" "" "" "MSCV_0001324" "" "0000001325" "0" "99" "M" "1624" "1624" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-21 21:02:15" "chrM_000077" "m.1624C>T" "" "{PMID:11799391:11799391}" "" "rs199476144" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.580" "" "" "" "" "MSCV_0001325" "" "0000004216" "0" "77" "M" "1607" "1607" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001097" "m.1607T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-0.014" "" "" "" "" "MSCV_0004216" "" "0000004243" "0" "55" "M" "1625" "1625" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001098" "m.1625A>G" "" "" "" "rs28633296" "subst" "0" ";" "1.760" "" "" "" "" "MSCV_0004243" "" "0000004257" "0" "77" "M" "1630" "1630" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2014-10-17 09:27:34" "chrM_001099" "m.1630A>G" "" "" "" "" "subst" "0" "; Mitomap;" "-0.143" "" "" "" "" "MSCV_0004257" "" "0000004273" "0" "55" "M" "1641" "1641" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2014-10-17 09:32:04" "chrM_001100" "m.1641G>A" "" "" "" "rs28416113" "subst" "0" ";" "1.370" "" "" "" "" "MSCV_0004273" "" "0000004275" "0" "77" "M" "1642" "1642" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001101" "m.1642G>A" "" "" "" "" "subst" "0" "; Mitomap;" "-4.250" "" "" "" "" "MSCV_0004275" "" "0000004276" "0" "77" "M" "1643" "1643" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2017-07-27 07:30:07" "chrM_001102" "m.1643A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.580" "" "" "" "" "MSCV_0004276" "" "0000004277" "0" "99" "M" "1644" "1644" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001103" "m.1644G>A" "" "" "" "" "subst" "0" "; Mitomap;" "3.760" "" "" "" "" "MSCV_0004277" "" "0000004278" "0" "99" "M" "1644" "1644" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001104" "m.1644G>T" "" "" "" "" "subst" "0" "; Mitomap;" "3.760" "" "" "" "" "MSCV_0004278" "" "0000004281" "0" "77" "M" "1659" "1659" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001105" "m.1659T>C" "" "" "" "" "subst" "0" "; Mitomap;" "3.390" "" "" "" "" "MSCV_0004281" "" "0000004282" "0" "55" "M" "1664" "1664" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-03-28 09:41:15" "chrM_001106" "m.1664G>A" "" "" "" "rs200807305" "subst" "0" ";" "-0.252" "" "" "" "" "MSCV_0004282" "" ## 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}}" "0000001324" "00001318" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001325" "00001318" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004216" "00001318" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004243" "00001318" "55" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004257" "00001318" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004273" "00001318" "55" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004275" "00001318" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004276" "00001318" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004277" "00001318" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004278" "00001318" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004281" "00001318" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004282" "00001318" "55" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0