### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLN8) # 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}}" "CLN8" "ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)" "8" "p23.3" "unknown" "NC_000008.10" "UD_138391552278" "" "" "" "1" "1" "2079" "2055" "607837" "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 = 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}}" "00003371" "CLN8" "ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)" "002" "NM_018941.3" "" "NP_061764.2" "" "" "" "-305" "6864" "861" "1711870" "1734736" "00001" "2015-01-22 13:59:16" "" "" "" "" "00003372" "CLN8" "transcript variant X1" "005" "XM_005266021.1" "" "XP_005266078.1" "" "" "" "-249" "1061" "861" "1711966" "1728933" "00001" "2015-01-22 13:59:16" "" "" "" "" "00003373" "CLN8" "transcript variant X2" "001" "XM_005266022.1" "" "XP_005266079.1" "" "" "" "-428" "1061" "861" "1703944" "1728933" "00001" "2015-01-22 13:59:16" "" "" "" "" "00003374" "CLN8" "transcript variant X3" "004" "XM_005266023.1" "" "XP_005266080.1" "" "" "" "-146" "1061" "861" "1711955" "1728933" "00001" "2015-01-22 13:59:16" "" "" "" "" "00003375" "CLN8" "transcript variant X4" "007" "XM_005266024.1" "" "XP_005266081.1" "" "" "" "-143" "1061" "861" "1712716" "1728933" "00001" "2015-01-22 13:59:16" "" "" "" "" "00003376" "CLN8" "transcript variant X5" "006" "XM_005266025.1" "" "XP_005266082.1" "" "" "" "-137" "1061" "861" "1712663" "1728933" "00001" "2015-01-22 13:59:16" "" "" "" "" "00003377" "CLN8" "transcript variant X6" "008" "XM_005266026.1" "" "XP_005266083.1" "" "" "" "-142" "1061" "861" "1713371" "1728933" "00001" "2015-01-22 13:59:16" "" "" "" "" "00003378" "CLN8" "transcript variant X7" "009" "XM_005266027.1" "" "XP_005266084.1" "" "" "" "-136" "1061" "861" "1715433" "1728933" "00001" "2015-01-22 13:59:16" "" "" "" "" "00003379" "CLN8" "transcript variant X8" "003" "XM_005266028.1" "" "XP_005266085.1" "" "" "" "-305" "809" "549" "1711870" "1728409" "00001" "2015-01-22 13:59:16" "" "" "" "" ## 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