### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-TI) # 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-TI" "mitochondrially encoded tRNA isoleucine" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7488" "4565" "590045" "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}}" "00001322" "MT-TI" "MT-TI-201" "000" "MT-TI-201" "ENST00000387365" "" "" "" "" "0" "0" "0" "4263" "4331" "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 = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00148" "500005" "HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL, caused by a mutation in the mitochondrial tRNA(Ile) gene (590045). MT-TI" "500005" "" "" "" "00001" "2013-11-16 09:48:31" "00001" "2013-11-16 09:50:56" "" "00159" "500008" "DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL " "500008" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MT-TI" "00148" "MT-TI" "00159" ## 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 = 22 "{{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}}" "0000001361" "0" "99" "M" "4269" "4269" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000006" "m.4269A>G" "" "{PMID:1632786:1632786}" "" "rs121434466" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0001361" "" "0000001362" "0" "99" "M" "4284" "4284" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000007" "m.4284G>A" "" "{PMID:11782991:11782991}" "" "rs121434468" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-1.370" "" "" "" "" "MSCV_0001362" "" "0000001363" "0" "99" "M" "4290" "4290" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000008" "m.4290T>C" "" "{PMID:15121771:15121771}" "" "rs121434469" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0001363" "" "0000001364" "0" "99" "M" "4291" "4291" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000009" "m.4291T>C" "" "{PMID:15498972:15498972}" "" "rs121434471" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0001364" "" "0000001365" "0" "99" "M" "4295" "4295" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000010" "m.4295A>G" "" "" "" "rs7349165" "subst" "0" "; clinVar; Mitomap; Ensembl;" "3.170" "" "" "" "" "MSCV_0001365" "" "0000001366" "0" "99" "M" "4300" "4300" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-06-28 08:03:51" "chrM_000011" "m.4300A>G" "" "{PMID:12767666:12767666}" "" "rs121434470" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0001366" "" "0000001367" "0" "99" "M" "4317" "4317" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000012" "m.4317A>G" "" "{PMID:12621050:12621050};{PMID:1978914:1978914}" "" "rs121434465" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-0.311" "" "" "" "" "MSCV_0001367" "" "0000004531" "0" "77" "M" "4263" "4263" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-06 09:03:43" "chrM_000680" "m.4263A>G" "" "" "" "" "subst" "0" "; Mitomap;" "3.170" "" "" "" "" "MSCV_0004531" "" "0000004532" "0" "77" "M" "4267" "4267" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 21:44:32" "chrM_000681" "m.4267A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004532" "" "0000004534" "0" "77" "M" "4274" "4274" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-06-23 12:16:55" "chrM_000682" "m.4274T>C" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004534" "" "0000004535" "0" "77" "M" "4277" "4277" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-08-24 09:19:53" "chrM_000683" "m.4277T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-9.060" "" "" "" "" "MSCV_0004535" "" "0000004536" "0" "77" "M" "4281" "4281" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-01 08:38:31" "chrM_000684" "m.4281A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004536" "" "0000004538" "0" "77" "M" "4285" "4285" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000685" "m.4285T>C" "" "" "" "" "subst" "0" "; Mitomap;" "3.550" "" "" "" "" "MSCV_0004538" "" "0000004539" "0" "77" "M" "4289" "4289" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000686" "m.4289T>C" "" "" "" "" "subst" "0" "; Mitomap;" "2.370" "" "" "" "" "MSCV_0004539" "" "0000004543" "0" "77" "M" "4298" "4298" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-10-11 16:57:58" "chrM_000687" "m.4298G>A" "" "" "" "" "subst" "0" "; Mitomap;" "3.700" "" "" "" "" "MSCV_0004543" "" "0000004545" "0" "77" "M" "4302" "4302" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000688" "m.4302A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004545" "" "0000004546" "0" "77" "M" "4308" "4308" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 21:44:32" "chrM_000762" "m.4308G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004546" "" "0000004547" "0" "77" "M" "4309" "4309" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000763" "m.4309G>A" "" "" "" "" "subst" "0" "; Mitomap;" "-1.390" "" "" "" "" "MSCV_0004547" "" "0000004548" "0" "55" "M" "4312" "4312" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001304" "m.4312C>T" "" "" "" "rs200931747" "subst" "0" ";" "2.520" "" "" "" "" "MSCV_0004548" "" "0000004549" "0" "77" "M" "4314" "4314" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-10 08:42:07" "chrM_000560" "m.4314T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-7.630" "" "" "" "" "MSCV_0004549" "" "0000004550" "0" "77" "M" "4316" "4316" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-09-03 07:28:13" "chrM_000561" "m.4316A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004550" "" "0000004552" "0" "77" "M" "4320" "4320" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-03-22 04:55:45" "chrM_000562" "m.4320C>T" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004552" "" ## 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 = 22 "{{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}}" "0000001361" "00001322" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001362" "00001322" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001363" "00001322" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001364" "00001322" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001365" "00001322" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001366" "00001322" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000001367" "00001322" "99" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004531" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004532" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004534" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004535" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004536" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004538" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004539" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004543" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004545" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004546" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004547" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004548" "00001322" "55" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004549" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004550" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" "0000004552" "00001322" "77" "0" "0" "0" "0" "." "." "." "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0