### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AK3) # 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}}" "AK3" "adenylate kinase 3" "9" "p24.1" "unknown" "NC_000009.11" "UD_132118801320" "" "" "" "1" "1" "17376" "50808" "609290" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 15:07:22" "" "" "" "" "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}}" "00001502" "AK3" "transcript variant 3" "001" "NM_001199853.1" "" "NP_001186782.1" "" "" "" "-131" "3894" "474" "4742043" "4709556" "00001" "2013-11-15 15:07:35" "" "" "" "9" "00001503" "AK3" "transcript variant 4" "002" "NM_001199854.1" "" "NP_001186783.1" "" "" "" "-73" "4104" "684" "4741846" "4709556" "00001" "2013-11-15 15:07:35" "" "" "" "9" "00001504" "AK3" "transcript variant 5" "003" "NM_001199855.1" "" "NP_001186784.1" "" "" "" "-138" "3894" "474" "4741799" "4709556" "00001" "2013-11-15 15:07:35" "" "" "" "9" "00001505" "AK3" "transcript variant 2" "004" "NM_001199852.1" "" "NP_001186781.1" "" "" "" "-222" "3984" "564" "4741309" "4709556" "00001" "2013-11-15 15:07:35" "" "" "" "9" "00001506" "AK3" "transcript variant 1" "005" "NM_016282.3" "" "NP_057366.2" "" "" "" "-222" "4104" "684" "4741309" "4709556" "00001" "2013-11-15 15:07:35" "" "" "" "9" "00001507" "AK3" "transcript variant 6" "006" "NM_001199856.1" "" "NP_001186785.1" "" "" "" "-204" "3894" "474" "4726227" "4709556" "00001" "2013-11-15 15:07:35" "" "" "" "9" ## 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