### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATM) # 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}}" "ATM" "ataxia telangiectasia mutated" "11" "q22-q23" "unknown" "NC_000011.9" "UD_138303677463" "" "" "" "1" "1" "795" "472" "607585" "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 21:25:34" "" "" "" "" "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 = 5 "{{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}}" "00000482" "ATM" "ataxia telangiectasia mutated" "001" "NM_000051.3" "" "NP_000042.3" "" "" "" "-385" "12762" "9171" "108093559" "108239826" "00001" "2013-11-12 21:29:14" "" "" "" "11" "00000483" "ATM" "transcript variant X2" "002" "XM_005271562.1" "" "XP_005271619.1" "" "" "" "-510" "12765" "9171" "108093934" "108239829" "00001" "2013-11-12 21:29:14" "" "" "" "11" "00000484" "ATM" "transcript variant X1" "003" "XM_005271561.1" "" "XP_005271618.1" "" "" "" "-118" "12765" "9171" "108095511" "108239829" "00001" "2013-11-12 21:29:14" "" "" "" "11" "00000485" "ATM" "transcript variant X3" "004" "XM_005271563.1" "" "XP_005271620.1" "" "" "" "-139" "12765" "9171" "108097076" "108239829" "00001" "2013-11-12 21:29:14" "" "" "" "11" "00000486" "ATM" "transcript variant X4" "005" "XM_005271564.1" "" "XP_005271621.1" "" "" "" "-160" "11721" "8127" "108117271" "108239829" "00001" "2013-11-12 21:29:14" "" "" "" "11" ## 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