### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDK19) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "CDK19" "cyclin-dependent kinase 19" "6" "q21" "unknown" "NC_000006.11" "UD_133034054283" "" "https://www.LOVD.nl/CDK19" "" "1" "19338" "23097" "614720" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CDK19_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-05-01 15:15:36" "00000" "2024-10-29 21:08:56" ## 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}}" "00004865" "CDK19" "cyclin-dependent kinase 19" "001" "NM_015076.3" "" "NP_055891.1" "" "" "" "-73" "6066" "1509" "111136412" "110931181" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CDK19" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00301126" "" "" "" "1" "" "03671" "{PMID:Chung 2020:32330417}, {DOI:Chung 2020:10.1016/j.ajhg.2020.04.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" ">25y" "0" "" "Sdioum valproate, topiramate, and lamotrigine" "white" "Proband 1" "00301155" "" "" "" "1" "" "03671" "{PMID:Chung 2020:32330417}, {DOI:Chung 2020:10.1016/j.ajhg.2020.04.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "China" ">02y" "0" "" "antiepileptic drugs, including sodium valproate and topiramate, failed to con- trol the seizures." "Asian" "Proband 2" "00301163" "" "" "" "1" "" "03671" "{PMID:Chung 2020:32330417}, {DOI:Chung 2020:10.1016/j.ajhg.2020.04.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "China" ">01y" "0" "" "various antiepileptic drugs" "Asian" "Proband3" "00391787" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "147P" "00408804" "" "" "" "1" "" "00000" "{PMID:Alazami 2012:22693042}" "" "M" "yes" "" "" "0" "" "" "" "JS_F8-1" "00408805" "" "" "" "1" "" "00000" "{PMID:Alazami 2012:22693042}" "" "F" "yes" "" "" "0" "" "" "" "JS_F8-2" "00408806" "" "" "" "1" "" "00000" "{PMID:Alazami 2012:22693042}" "" "M" "yes" "" "" "0" "" "" "" "JS_F9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00301126" "00139" "00301155" "00139" "00301163" "00139" "00391787" "00139" "00408804" "05109" "00408805" "05109" "00408806" "05109" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05109 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000228460" "00139" "00301155" "03671" "Isolated (sporadic)" "02y" "born at 38w; global developmental delay (HP:0001263), able to lift his head (barely), unable to track objects, roll, sit, crawl, does not babble; epilepsy (HP:0012847), 7m-infantile spasms (0012469); hypotonia (HP:0001290); dysmorphic face (HP:0001999), hypotelorism (HP:0000601), prominent nose (HP:0000448), bulbous tip (HP:0005274), large mouth, (HP:0000154), widely spaced teeth (HP:0000687); no scoliosis (-HP:0002650); MRI brain mild atrophy (HP:0012444); 10w-episodes of cyanosis (HP:0000961); 6m-generalized tonic-clonic seizures (HP:0025190); EEG hypsarrhythmia with burst suppression; height 86 cm (28th), weight 11.5 kg (32th), head circumference 47.5 cm (29th); global developmental delay (HP:0001263)" "00y09m" "" "cyanosis (HP:0000961)" "" "" "" "" "" "" "0000228467" "00139" "00301163" "03671" "Isolated (sporadic)" "01y" "born at 39w; global developmental delay (HP:0001263), 6m-not able to hold head, 12m-sit,18m-not able to crawl; epilepsy (HP:0012847), infantile spasms (0012469), 9m-daily atonic seizures; EEG hypsarrhythmia (HP:0002521); hypotonia (HP:0001290); dysmorphic face (HP:0001999), ocular hypertelorism (HP:0000316), prominent nose (HP:0000448), bulbous tip (HP:0005274), highly arched palate (HP:0000218), U-shape vermillion upper lip (HP:0011339), large mouth, (HP:0000154), widely spaced teeth (HP:0000687), arched upper lip (HP:0000177); no scoliosis (-HP:0002650); MRI brain delayed myelination; small calculus at both kidneys; single transverse palmar crease right hand (HP:0000954); height 90 cm (99.8th), weight 15.5 kg (99.9th), head circumference 48 cm (67.9th); no abnormalities at birth; global developmental delay (HP:0001263)" "01y" "" "" "" "" "" "" "" "" "0000228521" "00139" "00301126" "03671" "Isolated (sporadic)" "25y" "born at term; global developmental delay (HP:0001263); epilepsy (HP:0012847); hypotonia (HP:0001290); intellectual disability (HP:0001249); dysmorphic face(HP:0001999); scoliosis (HP:0002650); borderline microcephaly (HP:0000252); autism (HP:0000717), ataxia, short stature (HP:0004322); wide mouth (HP:0000154), widely spaced teeth (HP:0000687)" "00y04m" "" "postnatal microcephaly (HP:0005484)" "" "" "" "" "" "" "0000300923" "05109" "00408804" "00000" "Familial, autosomal recessive" "" "prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, no oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, no ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000300924" "05109" "00408805" "00000" "Familial, autosomal recessive" "" "prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, no oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, no ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000300925" "05109" "00408806" "00000" "Familial, autosomal recessive" "" "prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, ataxia, hypotonia, no occipital meningocele–; abnormal electroretino" "" "" "" "" "" "" "" "Joubert syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000302249" "00301126" "1" "03671" "03671" "2020-05-08 01:24:02" "" "" "SEQ-NG" "DNA" "Brain" "" "0000302279" "00301155" "1" "03671" "03671" "2020-05-08 12:06:00" "" "" "SEQ" "DNA" "" "" "0000302287" "00301163" "1" "03671" "03671" "2020-05-08 12:49:11" "00006" "2020-05-12 10:49:55" "SEQ" "DNA" "" "trio WES" "0000393030" "00391787" "1" "02494" "02494" "2021-11-19 10:39:08" "" "" "SEQ-NG" "DNA" "" "WES" "0000410069" "00408804" "1" "00000" "03840" "2022-04-28 12:52:45" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410070" "00408805" "1" "00000" "03840" "2022-04-28 12:52:45" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410071" "00408806" "1" "00000" "03840" "2022-04-28 12:52:45" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000302249" "CDK19" "0000302279" "CDK19" "0000302287" "CDK19" "0000410069" "TCTN1" "0000410070" "TCTN1" "0000410071" "TCTN1" ## 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 = 19 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000246484" "0" "10" "6" "110988795" "110988795" "subst" "0.155803" "02330" "CDK19_000003" "g.110988795A>T" "" "" "" "CDK19(NM_015076.5):c.316-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110667592A>T" "" "benign" "" "0000246520" "0" "30" "6" "110942294" "110942294" "subst" "2.53792E-5" "02330" "CDK19_000002" "g.110942294A>C" "" "" "" "CDK19(NM_015076.5):c.1377+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110621091A>C" "" "likely benign" "" "0000264490" "0" "30" "6" "110935837" "110935837" "subst" "0.00484179" "02330" "CDK19_000001" "g.110935837G>A" "" "" "" "CDK19(NM_015076.5):c.1410C>T (p.S470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110614634G>A" "" "likely benign" "" "0000264491" "0" "10" "6" "110988796" "110988796" "subst" "0.157318" "02330" "CDK19_000004" "g.110988796C>A" "" "" "" "CDK19(NM_015076.5):c.316-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110667593C>A" "" "benign" "" "0000526679" "0" "10" "6" "110953216" "110953216" "subst" "0.00206636" "02330" "CDK19_000005" "g.110953216A>G" "" "" "" "CDK19(NM_015076.5):c.646+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110632013A>G" "" "benign" "" "0000665366" "0" "90" "6" "110953293" "110953293" "subst" "0" "03671" "CDK19_000006" "g.110953293T>C" "" "{PMID:Chung 2020:32330417}, {DOI:Chung 2020:10.1016/j.ajhg.2020.04.001}" "" "" "" "De novo" "" "" "0" "" "" "g.110632090T>C" "" "pathogenic (dominant)" "" "0000665407" "0" "90" "6" "110953293" "110953293" "subst" "0" "03671" "CDK19_000006" "g.110953293T>C" "" "{PMID:Chung 2020:32330417}, {DOI:Chung 2020:10.1016/j.ajhg.2020.04.001}" "" "" "" "De novo" "" "" "0" "" "" "g.110632090T>C" "" "pathogenic (dominant)" "" "0000665415" "0" "90" "6" "111136246" "111136246" "subst" "0" "03671" "CDK19_000007" "g.111136246A>G" "" "{PMID:Chung 2020:32330417}, {DOI:Chung 2020:10.1016/j.ajhg.2020.04.001}" "" "" "" "De novo" "" "" "0" "" "" "g.110815043A>G" "" "pathogenic (dominant)" "" "0000823616" "0" "50" "6" "111067363" "111067368" "del" "0" "02494" "CDK19_000008" "g.111067363_111067368del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.110746160_110746165del" "" "likely pathogenic (!)" "" "0000847318" "3" "90" "6" "111064165" "111064165" "subst" "0" "00000" "TCTN1_000025" "g.111064165A>G" "" "{PMID:Alazami 2012:22693042}" "" "TCTN1 c.342-2A>G, p.G115KfsX8" "homozygous" "Germline" "yes" "" "0" "" "" "g.110626360A>G" "" "pathogenic" "" "0000847319" "3" "90" "6" "111064165" "111064165" "subst" "0" "00000" "TCTN1_000025" "g.111064165A>G" "" "{PMID:Alazami 2012:22693042}" "" "TCTN1 c.342-2A>G, p.G115KfsX8" "homozygous" "Germline" "yes" "" "0" "" "" "g.110626360A>G" "" "pathogenic" "" "0000847320" "3" "90" "6" "111064165" "111064165" "subst" "0" "00000" "TCTN1_000025" "g.111064165A>G" "" "{PMID:Alazami 2012:22693042}" "" "TCTN1 c.342-2A>G, p.G115KfsX8" "homozygous" "Germline" "yes" "" "0" "" "" "g.110626360A>G" "" "pathogenic" "" "0000851035" "0" "50" "6" "110959908" "110959908" "subst" "0" "02329" "CDK19_000009" "g.110959908T>C" "" "" "" "CDK19(NM_015076.5):c.458A>G (p.K153R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948612" "0" "70" "6" "111136257" "111136257" "subst" "0" "02325" "AMD1_000001" "g.111136257C>T" "" "" "" "CDK19(NM_001300960.2):c.83G>A (p.G28E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995250" "0" "30" "6" "110935790" "110935790" "subst" "8.12401E-6" "01804" "CDK19_000010" "g.110935790G>A" "" "" "" "CDK19(NM_015076.3):c.1457C>T (p.(Ser486Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995251" "0" "50" "6" "110948054" "110948054" "subst" "0" "01804" "CDK19_000011" "g.110948054A>C" "" "" "" "CDK19(NM_015076.3):c.791-6T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995252" "0" "50" "6" "110948273" "110948273" "subst" "0" "01804" "CDK19_000012" "g.110948273A>C" "" "" "" "CDK19(NM_015076.3):c.722T>G (p.(Ile241Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995253" "0" "50" "6" "110991740" "110991740" "subst" "0" "02325" "CDK19_000013" "g.110991740A>G" "" "" "" "CDK19(NM_001300960.2):c.209T>C (p.L70S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014160" "0" "50" "6" "110944072" "110944072" "subst" "0" "02329" "CDK19_000014" "g.110944072G>A" "" "" "" "CDK19(NM_015076.5):c.977C>T (p.S326L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes CDK19 ## Count = 19 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000246484" "00004865" "10" "316" "-18" "316" "-18" "c.316-18T>A" "r.(=)" "p.(=)" "" "0000246520" "00004865" "30" "1377" "13" "1377" "13" "c.1377+13T>G" "r.(=)" "p.(=)" "" "0000264490" "00004865" "30" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Ser470=)" "" "0000264491" "00004865" "10" "316" "-19" "316" "-19" "c.316-19G>T" "r.(=)" "p.(=)" "" "0000526679" "00004865" "10" "646" "17" "646" "17" "c.646+17T>C" "r.(=)" "p.(=)" "" "0000665366" "00004865" "90" "586" "0" "586" "0" "c.586A>G" "r.(?)" "p.(Thr196Ala)" "6" "0000665407" "00004865" "90" "586" "0" "586" "0" "c.586A>G" "r.(?)" "p.(Thr196Ala)" "6" "0000665415" "00004865" "90" "94" "0" "94" "0" "c.94T>C" "r.(?)" "p.(Tyr32His)" "1" "0000823616" "00004865" "50" "168" "0" "173" "0" "c.168_173del" "r.(?)" "p.(Thr57_Gly58del)" "" "0000847318" "00004865" "90" "204" "3164" "204" "3164" "c.204+3164T>C" "r.(=)" "p.(=)" "" "0000847319" "00004865" "90" "204" "3164" "204" "3164" "c.204+3164T>C" "r.(=)" "p.(=)" "" "0000847320" "00004865" "90" "204" "3164" "204" "3164" "c.204+3164T>C" "r.(=)" "p.(=)" "" "0000851035" "00004865" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "" "0000948612" "00004865" "70" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Gly28Glu)" "" "0000995250" "00004865" "30" "1457" "0" "1457" "0" "c.1457C>T" "r.(?)" "p.(Ser486Leu)" "" "0000995251" "00004865" "50" "791" "-6" "791" "-6" "c.791-6T>G" "r.(=)" "p.(=)" "" "0000995252" "00004865" "50" "722" "0" "722" "0" "c.722T>G" "r.(?)" "p.(Ile241Arg)" "" "0000995253" "00004865" "50" "209" "0" "209" "0" "c.209T>C" "r.(?)" "p.(Leu70Ser)" "" "0001014160" "00004865" "50" "977" "0" "977" "0" "c.977C>T" "r.(?)" "p.(Ser326Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000302249" "0000665366" "0000302279" "0000665407" "0000302287" "0000665415" "0000393030" "0000823616" "0000410069" "0000847318" "0000410070" "0000847319" "0000410071" "0000847320"