### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TPK1) # 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}}" "TPK1" "thiamin pyrophosphokinase 1" "7" "q34-q35" "unknown" "NC_000007.13" "UD_138314074969" "" "" "" "1" "1" "17358" "27010" "606370" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com" "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "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 = 9 "{{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}}" "00000337" "TPK1" "transcript variant X1" "001" "XM_005249970.1" "" "XP_005250027.1" "" "" "" "-81" "2336" "732" "144533488" "144149034" "00001" "2013-11-07 14:01:25" "" "" "" "7" "00000338" "TPK1" "transcript variant 2" "002" "NM_001042482.1" "" "NP_001035947.1" "" "" "" "-103" "2189" "585" "144533146" "144149034" "00001" "2013-11-07 14:01:25" "" "" "" "7" "00000339" "TPK1" "transcript variant 1" "003" "NM_022445.3" "" "NP_071890.2" "" "" "" "-103" "2336" "732" "144533146" "144149034" "00001" "2013-11-07 14:01:25" "" "" "" "7" "00000340" "TPK1" "transcript variant X7" "004" "XR_242180.1" "" "" "" "" "" "1" "2561" "2561" "144533146" "144149034" "00001" "2013-11-07 14:01:25" "" "" "" "7" "00000341" "TPK1" "transcript variant X2" "005" "XM_005249971.1" "" "XP_005250028.1" "" "" "" "-107" "2336" "732" "144532887" "144149034" "00001" "2013-11-07 14:01:25" "" "" "" "7" "00000342" "TPK1" "transcript variant X6" "006" "XM_005249975.1" "" "XP_005250032.1" "" "" "" "-200" "2018" "414" "144463039" "144149034" "00001" "2013-11-07 14:01:25" "" "" "" "7" "00000343" "TPK1" "transcript variant X4" "007" "XM_005249973.1" "" "XP_005250030.1" "" "" "" "-21" "2174" "570" "144380071" "144149034" "00001" "2013-11-07 14:01:25" "" "" "" "7" "00000344" "TPK1" "transcript variant X5" "008" "XM_005249974.1" "" "XP_005250031.1" "" "" "" "-34" "2171" "567" "144378953" "144149034" "00001" "2013-11-07 14:01:25" "" "" "" "7" "00000345" "TPK1" "transcript variant X3" "009" "XM_005249972.1" "" "XP_005250029.1" "" "" "" "-103" "859" "627" "144533146" "144243978" "00001" "2013-11-07 14:01:25" "" "" "" "7" ## 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 = 0 ## 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 = 0 ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0