### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CEP290) # 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}}" "CEP290" "centrosomal protein 290kDa" "12" "q21.33" "unknown" "NC_000012.11" "UD_132085333270" "" "" "" "1" "1" "29021" "80184" "610142" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-12-10 21:13:37" "" "" "00000" "2013-12-10 21:13:37" "" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00003195" "CEP290" "centrosomal protein 290kDa" "001" "NM_025114.3" "" "NP_079390.3" "" "" "" "-344" "7611" "7440" "88442790" "88535993" "00000" "2013-12-10 21:13:37" "" "" "" "12" ## 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 = 3 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000478" "0" "99" "12" "88477713" "88477713" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-29 23:17:57" "CEP290_000003" "g.88477713T>A" "" "{PMID:17564967:17564967}" "" "rs137852834" "subst" "0" ";" "5.430" "" "" "" "" "MSCV_0000478" "" "0000000479" "0" "99" "12" "88494960" "88494960" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 08:39:02" "CEP290_000001" "g.88494960T>C" "" "" "" "" "subst" "0" ";" "1.470" "" "" "" "" "MSCV_0000479" "" "0000000480" "0" "99" "12" "88505097" "88505097" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 08:32:23" "CEP290_000002" "g.88505097A>C" "" "{PMID:16909394:16909394}" "" "rs137852833" "subst" "0" "; clinvar; ensembl;" "5.860" "" "" "" "" "MSCV_0000480" "" ## 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 = 3 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000478" "00003195" "55" "4723" "0" "4723" "0" "c.4723A>T" "36/54" "p.(Lys1575*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000479" "00003195" "55" "2991" "1655" "2991" "1655" "c.2991+1655A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000480" "00003195" "99" "2249" "0" "2249" "0" "c.2249T>G" "22/54" "p.(Leu750*)" "r.(?)" "-" "" "stop_gained" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0