### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NKX2-1) # 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}}" "NKX2-1" "NK2 homeobox 1" "14" "q13.3" "unknown" "NC_000014.8" "UD_138306744427" "" "" "" "1" "1" "11825" "7080" "600635" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "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 = 6 "{{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}}" "00000988" "NKX2-1" "transcript variant X1" "001" "XM_005268030.1" "" "XP_005268087.1" "" "" "" "-1060" "2228" "1347" "36990894" "36985602" "00001" "2013-11-12 21:52:03" "" "" "" "14" "00000989" "NKX2-1" "transcript variant X2" "002" "XM_005268031.1" "" "XP_005268088.1" "" "" "" "-550" "2087" "1206" "36990154" "36985602" "00001" "2013-11-12 21:52:03" "" "" "" "14" "00000990" "NKX2-1" "transcript variant X3" "003" "XM_005268032.1" "" "XP_005268089.1" "" "" "" "-700" "1997" "1116" "36990069" "36985602" "00001" "2013-11-12 21:52:03" "" "" "" "14" "00000991" "NKX2-1" "transcript variant X4" "004" "XM_005268033.1" "" "XP_005268090.1" "" "" "" "-32" "1997" "1116" "36989780" "36985602" "00001" "2013-11-12 21:52:03" "" "" "" "14" "00000992" "NKX2-1" "transcript variant 1" "005" "NM_001079668.2" "" "NP_001073136.1" "" "" "" "-96" "2087" "1206" "36989430" "36985602" "00001" "2013-11-12 21:52:03" "" "" "" "14" "00000993" "NKX2-1" "transcript variant 2" "006" "NM_003317.3" "" "NP_003308.1" "" "" "" "-341" "1997" "1116" "36988903" "36985602" "00001" "2013-11-12 21:52:03" "" "" "" "14" ## 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