### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CEP85L) # 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}}" "CEP85L" "centrosomal protein 85kDa-like" "6" "q22.31" "unknown" "NG_021248.1" "UD_139310730323" "" "" "" "1" "1" "21638" "387119" "" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:16:58" "" "" "00000" "2014-04-18 19:16:58" "" ## 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}}" "00003292" "CEP85L" "transcript variant 1" "003" "NM_001042475.2" "" "NP_001035940.1" "" "" "" "-588" "7051" "2418" "118781935" "118973020" "00000" "2014-04-18 19:16:58" "" "" "" "" ## 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}}" "0000003289" "0" "99" "6" "118880109" "118880109" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-10-21 22:01:16" "CEP85L_000003" "g.118880109C>T" "" "{PMID:12610310:12610310};{PMID:19139388:19139388};{PMID:21282613:21282613};{PMID:23308118:23308118};{PMID:18056057:18056057};{PMID:22427649:22427649};{PMID:22707725:22707725}" "" "rs111033559" "subst" "0" "; clinvar;" "4.840" "" "" "" "" "MSCV_0003289" "" "0000003290" "0" "55" "6" "118880121" "118880123" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-10-21 21:23:35" "CEP85L_000001" "g.118880121_118880123del" "" "{PMID:17010801:17010801};{PMID:19324307:19324307};{PMID:16432188:16432188};{PMID:22155237:22155237};{PMID:22427649:22427649};{PMID:22707725:22707725};{PMID:22820313:22820313};{PMID:23785128:23785128}" "" "rs397516784" "del" "0" ";" "" "" "" "" "" "MSCV_0003290" "" "0000003291" "0" "99" "6" "118880200" "118880200" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-10-21 16:19:49" "CEP85L_000002" "g.118880200T>G" "" "{PMID:12639993:12639993};{PMID:21167350:21167350};{PMID:23861362:23861362};{PMID:17655857:17655857}" "" "rs111033560" "subst" "0" "; clinvar;" "5.570" "" "" "" "" "MSCV_0003291" "" ## 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}}" "0000003289" "00003292" "99" "1020" "6583" "1020" "6583" "c.1020+6583G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003290" "00003292" "55" "1020" "6571" "1020" "6569" "c.1020+6569_1020+6571del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003291" "00003292" "99" "1020" "6492" "1020" "6492" "c.1020+6492A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0