### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDKL5) # 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}}" "CDKL5" "cyclin-dependent kinase-like 5" "X" "p22" "unknown" "NC_000023.10" "UD_132118353676" "" "" "" "1" "1" "11411" "6792" "300203" "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 = 2 "{{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}}" "00000602" "CDKL5" "transcript variant I" "001" "NM_003159.2" "" "NP_003150.1" "" "" "" "-253" "3178" "3093" "18443725" "18671749" "00001" "2013-11-12 21:32:54" "" "" "" "X" "00000603" "CDKL5" "transcript variant II" "002" "NM_001037343.1" "" "NP_001032420.1" "" "" "" "-249" "3178" "3093" "18460344" "18671749" "00001" "2013-11-12 21:32:54" "" "" "" "X" ## 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 = 10 "{{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}}" "0000003617" "0" "99" "X" "18582616" "18582616" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-07-30 17:23:17" "CDKL5_000010" "g.18582616C>T" "" "{PMID:17993579:17993579};{PMID:19793311:19793311}" "" "rs122460159" "subst" "0" "; clinvar;" "4.850" "" "" "" "" "MSCV_0003617" "" "0000003618" "0" "99" "X" "18593543" "18593543" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-07-30 17:10:45" "CDKL5_000001" "g.18593543T>A" "" "{PMID:23757202:23757202};{PMID:19396824:19396824}" "" "rs62641235" "subst" "0" "; clinvar;" "5.690" "" "" "" "" "MSCV_0003618" "" "0000003619" "0" "99" "X" "18593543" "18593543" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:48:27" "CDKL5_000002" "g.18593543T>C" "" "{PMID:23757202:23757202};{PMID:19396824:19396824}" "" "rs62641235" "subst" "0" "; clinvar;" "5.690" "" "" "" "" "MSCV_0003619" "" "0000003620" "0" "99" "X" "18600062" "18600062" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:48:28" "CDKL5_000003" "g.18600062G>T" "" "{PMID:15499549:15499549}" "" "rs122460157" "subst" "0" "; clinvar;" "6.070" "" "" "" "" "MSCV_0003620" "" "0000003621" "0" "99" "X" "18602444" "18602444" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2015-11-24 20:56:53" "CDKL5_000004" "g.18602444A>T" "" "{PMID:15499549:15499549}" "" "rs61749700" "subst" "0" "; clinvar;" "1.280" "" "" "" "" "MSCV_0003621" "" "0000003622" "0" "99" "X" "18602452" "18602452" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-07-30 17:06:46" "CDKL5_000005" "g.18602452G>A" "" "{PMID:19793311:19793311};{PMID:23757202:23757202}" "" "rs267606715" "subst" "0" "; clinvar;" "5.600" "" "" "" "" "MSCV_0003622" "" "0000003623" "0" "99" "X" "18602452" "18602452" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-10-10 19:11:38" "CDKL5_000006" "g.18602452G>C" "" "{PMID:19793311:19793311};{PMID:23757202:23757202}" "" "rs267606715" "subst" "0" "; clinvar;" "5.600" "" "" "" "" "MSCV_0003623" "" "0000003624" "0" "99" "X" "18616619" "18616619" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:48:33" "CDKL5_000007" "g.18616619C>T" "" "{PMID:18809835:18809835}" "" "rs267606713" "subst" "0" "; clinvar;" "5.520" "" "" "" "" "MSCV_0003624" "" "0000003625" "0" "99" "X" "18616628" "18616628" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 15:31:08" "CDKL5_000008" "g.18616628G>A" "" "{PMID:18809835:18809835}" "" "rs267606714" "subst" "0" "; clinvar;" "5.520" "" "" "" "" "MSCV_0003625" "" "0000003626" "0" "99" "X" "18646494" "18646494" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:48:35" "CDKL5_000009" "g.18646494C>T" "" "{PMID:16813600:16813600}" "" "rs122460158" "subst" "0" "; clinvar;" "5.730" "" "" "" "" "MSCV_0003626" "" ## 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 = 20 "{{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}}" "0000003617" "00000602" "99" "119" "0" "119" "0" "c.119C>T" "5/22" "p.(Ala40Val)" "r.(?)" "possibly_damaging(0.798)" "" "missense_variant" "" "" "deleterious(0)" "0000003617" "00000603" "99" "119" "0" "119" "0" "c.119C>T" "5/22" "p.(Ala40Val)" "r.(?)" "possibly_damaging(0.798)" "" "missense_variant" "" "" "deleterious(0)" "0000003618" "00000602" "99" "215" "0" "215" "0" "c.215T>A" "6/22" "p.(Ile72Asn)" "r.(?)" "probably_damaging(0.934)" "" "missense_variant" "" "" "deleterious(0)" "0000003618" "00000603" "99" "215" "0" "215" "0" "c.215T>A" "6/22" "p.(Ile72Asn)" "r.(?)" "probably_damaging(0.934)" "" "missense_variant" "" "" "deleterious(0)" "0000003619" "00000602" "99" "215" "0" "215" "0" "c.215T>C" "6/22" "p.(Ile72Thr)" "r.(?)" "possibly_damaging(0.803)" "" "missense_variant" "" "" "deleterious(0)" "0000003619" "00000603" "99" "215" "0" "215" "0" "c.215T>C" "6/22" "p.(Ile72Thr)" "r.(?)" "possibly_damaging(0.803)" "" "missense_variant" "" "" "deleterious(0)" "0000003620" "00000602" "99" "455" "0" "455" "0" "c.455G>T" "8/22" "p.(Cys152Phe)" "r.(?)" "probably_damaging(0.951)" "" "missense_variant" "" "" "deleterious(0)" "0000003620" "00000603" "99" "455" "0" "455" "0" "c.455G>T" "8/22" "p.(Cys152Phe)" "r.(?)" "probably_damaging(0.951)" "" "missense_variant" "" "" "deleterious(0)" "0000003621" "00000602" "99" "525" "0" "525" "0" "c.525A>T" "9/22" "p.(Arg175Ser)" "r.(?)" "possibly_damaging(0.849)" "" "missense_variant" "" "" "deleterious(0)" "0000003621" "00000603" "99" "525" "0" "525" "0" "c.525A>T" "9/22" "p.(Arg175Ser)" "r.(?)" "possibly_damaging(0.849)" "" "missense_variant" "" "" "deleterious(0)" "0000003622" "00000602" "77" "533" "0" "533" "0" "c.533G>A" "9/22" "p.(Arg178Gln)" "r.(?)" "possibly_damaging(0.857)" "" "missense_variant" "" "" "deleterious(0)" "0000003622" "00000603" "77" "533" "0" "533" "0" "c.533G>A" "9/22" "p.(Arg178Gln)" "r.(?)" "possibly_damaging(0.857)" "" "missense_variant" "" "" "deleterious(0)" "0000003623" "00000602" "77" "533" "0" "533" "0" "c.533G>C" "9/22" "p.(Arg178Pro)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0)" "0000003623" "00000603" "77" "533" "0" "533" "0" "c.533G>C" "9/22" "p.(Arg178Pro)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0)" "0000003624" "00000602" "99" "863" "0" "863" "0" "c.863C>T" "12/22" "p.(Thr288Ile)" "r.(?)" "benign(0.379)" "" "missense_variant" "" "" "tolerated(0.17)" "0000003624" "00000603" "99" "863" "0" "863" "0" "c.863C>T" "12/22" "p.(Thr288Ile)" "r.(?)" "benign(0.379)" "" "missense_variant" "" "" "tolerated(0.17)" "0000003625" "00000602" "99" "872" "0" "872" "0" "c.872G>A" "12/22" "p.(Cys291Tyr)" "r.(?)" "possibly_damaging(0.671)" "" "missense_variant" "" "" "deleterious(0)" "0000003625" "00000603" "99" "872" "0" "872" "0" "c.872G>A" "12/22" "p.(Cys291Tyr)" "r.(?)" "possibly_damaging(0.671)" "" "missense_variant" "" "" "deleterious(0)" "0000003626" "00000602" "99" "2500" "0" "2500" "0" "c.2500C>T" "19/22" "p.(Gln834*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003626" "00000603" "99" "2500" "0" "2500" "0" "c.2500C>T" "19/22" "" "" "-" "" "stop_gained" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0