### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHAT) # 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}}" "CHAT" "choline O-acetyltransferase" "10" "q11.2" "unknown" "NC_000010.10" "UD_132085228294" "" "" "" "1" "1" "1912" "1103" "118490" "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 = 7 "{{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}}" "00001713" "CHAT" "transcript variant R" "001" "NM_020984.3" "" "NP_066264.3" "" "" "" "-173" "1951" "1893" "50817141" "50873150" "00001" "2013-11-15 15:15:16" "" "" "" "10" "00001714" "CHAT" "transcript variant N1" "002" "NM_020985.3" "" "NP_066265.3" "" "" "" "-335" "1951" "1893" "50821154" "50873150" "00001" "2013-11-15 15:15:16" "" "" "" "10" "00001715" "CHAT" "transcript variant N2" "003" "NM_020986.3" "" "NP_066266.3" "" "" "" "-163" "1951" "1893" "50821154" "50873150" "00001" "2013-11-15 15:15:16" "" "" "" "10" "00001716" "CHAT" "transcript variant S" "004" "NM_001142933.1" "" "NP_001136405.1" "" "" "" "-469" "2059" "2001" "50822083" "50873150" "00001" "2013-11-15 15:15:17" "" "" "" "10" "00001717" "CHAT" "transcript variant S" "005" "NM_001142934.1" "" "NP_001136406.1" "" "" "" "-577" "1951" "1893" "50822083" "50873150" "00001" "2013-11-15 15:15:17" "" "" "" "10" "00001718" "CHAT" "transcript variant M" "006" "NM_020549.4" "" "NP_065574.3" "" "" "" "-153" "2305" "2247" "50822083" "50873150" "00001" "2013-11-15 15:15:17" "" "" "" "10" "00001719" "CHAT" "transcript variant M" "007" "NM_001142929.1" "" "NP_001136401.1" "" "" "" "-507" "1951" "1893" "50822083" "50873150" "00001" "2013-11-15 15:15:17" "" "" "" "10" ## 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