### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDK12) # 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}}" "CDK12" "cyclin-dependent kinase 12" "17" "q12" "unknown" "NC_000017.10" "UD_132378603950" "" "https://www.LOVD.nl/CDK12" "" "1" "24224" "51755" "615514" "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/CDK12_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-08-30 16:27:09" "00000" "2025-09-24 12:59:02" ## 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}}" "00004858" "CDK12" "transcript variant 1" "001" "NM_016507.2" "" "NP_057591.2" "" "" "" "-586" "7704" "4473" "37617739" "37690800" "" "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}}" "01524" "cancer, prostate" "cancer, prostate" "AD;SMu" "176807" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02464" "PCBC" "Prostate cancer/brain cancer susceptibility" "" "603688" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00380940" "" "" "" "1" "" "04160" "" "" "M" "" "" "" "" "" "" "" "" "00431560" "" "" "" "1" "" "04467" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00380940" "02464" "00431560" "01524" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01524, 02464 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000382314" "00380940" "1" "04160" "04160" "2021-08-25 14:04:59" "" "" "SEQ-NG" "DNA" "FFPE" "" "0000432993" "00431560" "1" "04467" "04467" "2023-02-15 05:45:40" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000382314" "CDK12" "0000432993" "CDK12" ## 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 = 7 "{{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}}" "0000561206" "0" "50" "17" "37627188" "37627188" "subst" "0" "01943" "CDK12_000001" "g.37627188C>T" "" "" "" "CDK12(NM_016507.3):c.1103C>T (p.S368F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39470935C>T" "" "VUS" "" "0000561207" "0" "10" "17" "37627693" "37627693" "subst" "0.00588739" "01943" "CDK12_000002" "g.37627693A>C" "" "" "" "CDK12(NM_016507.3):c.1608A>C (p.P536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39471440A>C" "" "benign" "" "0000796073" "3" "70" "17" "37657530" "37657530" "del" "0" "04160" "CDK12_000003" "g.37657530del" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.39501277del" "" "VUS" "" "0000918618" "0" "70" "17" "37657530" "37657530" "del" "0" "04467" "CDK12_000003" "g.37657530del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.39501277del" "" "VUS" "" "0000968843" "0" "50" "17" "37650845" "37650845" "subst" "0" "02327" "CDK12_000004" "g.37650845C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047589" "0" "50" "17" "37627811" "37627811" "subst" "0" "03779" "CDK12_000005" "g.37627811G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001048354" "0" "50" "17" "37687312" "37687312" "subst" "0" "03779" "CDK12_000006" "g.37687312G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "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 CDK12 ## Count = 7 "{{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}}" "0000561206" "00004858" "50" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Ser368Phe)" "" "0000561207" "00004858" "10" "1608" "0" "1608" "0" "c.1608A>C" "r.(?)" "p.(Pro536=)" "" "0000796073" "00004858" "70" "2447" "0" "2447" "0" "c.2447del" "r.(?)" "p.(Met816Argfs*5)" "" "0000918618" "00004858" "70" "2447" "0" "2447" "0" "c.2447del" "r.(?)" "p.(Met816Argfs*5)" "" "0000968843" "00004858" "50" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Arg773Cys)" "" "0001047589" "00004858" "50" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Val576Leu)" "" "0001048354" "00004858" "50" "4216" "0" "4216" "0" "c.4216G>T" "r.(?)" "p.(Ala1406Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000382314" "0000796073" "0000432993" "0000918618"