### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CEBPA) # 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}}" "CEBPA" "CCAAT/enhancer binding protein (C/EBP), alpha" "19" "q13.1" "unknown" "NG_012022.1" "UD_132084446463" "" "https://www.LOVD.nl/CEBPA" "" "1" "1833" "1050" "116897" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CEBPA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-24 16:50:26" "00000" "2025-02-07 18:57:27" ## 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}}" "00004924" "CEBPA" "CCAAT/enhancer binding protein (C/EBP), alpha" "001" "NM_004364.3" "" "NP_004355.2" "" "" "" "-110" "2481" "1077" "33793430" "33790840" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CEBPA" "00908" ## 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 ## ## Note: Only showing Phenotype columns active for Diseases 00908 ## 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 = 31 "{{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}}" "0000266653" "0" "30" "19" "33792919" "33792919" "subst" "0.00190658" "02325" "CEBPA_000009" "g.33792919C>T" "" "" "" "CEBPA(NM_001285829.1):c.45G>A (p.A15=), CEBPA(NM_004364.5):c.402G>A (p.(Ala134Ala), p.A134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33302013C>T" "" "likely benign" "" "0000268087" "0" "30" "19" "33793297" "33793297" "subst" "0" "02329" "CEBPA_000013" "g.33793297C>T" "" "" "" "CEBPA(NM_004364.5):c.24G>A (p.E8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33302391C>T" "" "likely benign" "" "0000268088" "0" "30" "19" "33793024" "33793026" "del" "0" "02329" "CEBPA_000010" "g.33793024_33793026del" "" "" "" "CEBPA(NM_004364.5):c.311_313delGCG (p.G104del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33302118_33302120del" "" "likely benign" "" "0000268089" "0" "30" "19" "33792900" "33792900" "subst" "0" "02329" "CEBPA_000008" "g.33792900C>A" "" "" "" "CEBPA(NM_001285829.1):c.64G>T (p.G22C), CEBPA(NM_004364.5):c.421G>T (p.G141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33301994C>A" "" "likely benign" "" "0000268091" "0" "30" "19" "33792681" "33792681" "subst" "0" "02329" "CEBPA_000004" "g.33792681C>T" "" "" "" "CEBPA(NM_004364.5):c.640G>A (p.G214S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33301775C>T" "" "likely benign" "" "0000269950" "0" "50" "19" "33793146" "33793146" "subst" "0" "02326" "CEBPA_000012" "g.33793146C>A" "" "" "" "CEBPA(NM_004364.3):c.175G>T (p.E59*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33302240C>A" "" "VUS" "" "0000269951" "0" "50" "19" "33793062" "33793062" "subst" "0" "02326" "CEBPA_000011" "g.33793062G>A" "" "" "" "CEBPA(NM_004364.3):c.259C>T (p.Q87*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33302156G>A" "" "VUS" "" "0000269952" "0" "10" "19" "33792748" "33792748" "subst" "0" "02326" "CEBPA_000007" "g.33792748G>A" "" "" "" "CEBPA(NM_001285829.1):c.216C>T (p.(His72=)), CEBPA(NM_004364.3):c.573C>T (p.H191=), CEBPA(NM_004364.5):c.573C>T (p.H191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33301842G>A" "" "benign" "" "0000269954" "0" "10" "19" "33792631" "33792631" "subst" "0.185633" "02326" "CEBPA_000003" "g.33792631C>A" "" "" "" "CEBPA(NM_001285829.1):c.333G>T (p.T111=), CEBPA(NM_004364.5):c.690G>T (p.T230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33301725C>A" "" "benign" "" "0000269955" "0" "50" "19" "33792423" "33792423" "subst" "0" "02326" "CEBPA_000002" "g.33792423G>A" "" "" "" "CEBPA(NM_004364.3):c.898C>T (p.R300C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33301517G>A" "" "VUS" "" "0000566847" "0" "50" "19" "33792280" "33792280" "subst" "0.00183172" "02326" "CEBPA_000014" "g.33792280C>T" "" "" "" "CEBPA(NM_001285829.1):c.684G>A (p.(Glu228=)), CEBPA(NM_004364.3):c.1041G>A (p.E347=), CEBPA(NM_004364.5):c.1041G>A (p.E347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33301374C>T" "" "VUS" "" "0000566848" "0" "10" "19" "33792280" "33792280" "subst" "0.00183172" "02329" "CEBPA_000014" "g.33792280C>T" "" "" "" "CEBPA(NM_001285829.1):c.684G>A (p.(Glu228=)), CEBPA(NM_004364.3):c.1041G>A (p.E347=), CEBPA(NM_004364.5):c.1041G>A (p.E347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33301374C>T" "" "benign" "" "0000566849" "0" "50" "19" "33792372" "33792373" "ins" "0" "02326" "CEBPA_000015" "g.33792372_33792373insACG" "" "" "" "CEBPA(NM_004364.3):c.949_950insGTC (p.E316_L317insR)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33301466_33301467insACG" "" "VUS" "" "0000566850" "0" "50" "19" "33792565" "33792565" "subst" "0.00178424" "02326" "CEBPA_000016" "g.33792565C>A" "" "" "" "CEBPA(NM_001285829.1):c.399G>T (p.(Ala133=)), CEBPA(NM_004364.3):c.756G>T (p.A252=), CEBPA(NM_004364.5):c.756G>T (p.A252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33301659C>A" "" "VUS" "" "0000566851" "0" "10" "19" "33792565" "33792565" "subst" "0.00178424" "02329" "CEBPA_000016" "g.33792565C>A" "" "" "" "CEBPA(NM_001285829.1):c.399G>T (p.(Ala133=)), CEBPA(NM_004364.3):c.756G>T (p.A252=), CEBPA(NM_004364.5):c.756G>T (p.A252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33301659C>A" "" "benign" "" "0000566852" "0" "50" "19" "33792628" "33792628" "subst" "0.0013089" "02326" "CEBPA_000017" "g.33792628G>C" "" "" "" "CEBPA(NM_001285829.1):c.336C>G (p.(Pro112=)), CEBPA(NM_004364.3):c.693C>G (p.P231=), CEBPA(NM_004364.5):c.693C>G (p.P231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33301722G>C" "" "VUS" "" "0000566853" "0" "10" "19" "33792628" "33792628" "subst" "0.0013089" "02329" "CEBPA_000017" "g.33792628G>C" "" "" "" "CEBPA(NM_001285829.1):c.336C>G (p.(Pro112=)), CEBPA(NM_004364.3):c.693C>G (p.P231=), CEBPA(NM_004364.5):c.693C>G (p.P231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33301722G>C" "" "benign" "" "0000566854" "0" "50" "19" "33792731" "33792732" "ins" "0" "02326" "CEBPA_000006" "g.33792731_33792732insCGGGTG" "" "" "" "CEBPA(NM_004364.3):c.590_591insACCCGC (p.P198_A199dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33301825_33301826insCGGGTG" "" "VUS" "" "0000566856" "0" "10" "19" "33792747" "33792752" "dup" "0" "02329" "CEBPA_000019" "g.33792747_33792752dup" "" "" "" "CEBPA(NM_001285829.1):c.227_232dup (p.(His76_Pro77dup)), CEBPA(NM_004364.5):c.584_589dupACCCGC (p.H195_P196dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33301841_33301846dup" "" "benign" "" "0000566857" "0" "30" "19" "33793410" "33793410" "subst" "0" "01943" "CEBPA_000020" "g.33793410G>A" "" "" "" "CEBPA(NM_001287424.1):c.16C>T (p.R6*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33302504G>A" "" "likely benign" "" "0000681361" "0" "10" "19" "33792748" "33792748" "subst" "0" "01804" "CEBPA_000007" "g.33792748G>A" "" "" "" "CEBPA(NM_001285829.1):c.216C>T (p.(His72=)), CEBPA(NM_004364.3):c.573C>T (p.H191=), CEBPA(NM_004364.5):c.573C>T (p.H191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681362" "0" "30" "19" "33792919" "33792919" "subst" "0.00190658" "01943" "CEBPA_000009" "g.33792919C>T" "" "" "" "CEBPA(NM_001285829.1):c.45G>A (p.A15=), CEBPA(NM_004364.5):c.402G>A (p.(Ala134Ala), p.A134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681363" "0" "30" "19" "33792919" "33792919" "subst" "0.00190658" "02329" "CEBPA_000009" "g.33792919C>T" "" "" "" "CEBPA(NM_001285829.1):c.45G>A (p.A15=), CEBPA(NM_004364.5):c.402G>A (p.(Ala134Ala), p.A134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692747" "0" "10" "19" "33792280" "33792280" "subst" "0.00183172" "01804" "CEBPA_000014" "g.33792280C>T" "" "" "" "CEBPA(NM_001285829.1):c.684G>A (p.(Glu228=)), CEBPA(NM_004364.3):c.1041G>A (p.E347=), CEBPA(NM_004364.5):c.1041G>A (p.E347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692748" "0" "10" "19" "33792565" "33792565" "subst" "0.00178424" "01804" "CEBPA_000016" "g.33792565C>A" "" "" "" "CEBPA(NM_001285829.1):c.399G>T (p.(Ala133=)), CEBPA(NM_004364.3):c.756G>T (p.A252=), CEBPA(NM_004364.5):c.756G>T (p.A252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692749" "0" "10" "19" "33792628" "33792628" "subst" "0.0013089" "01804" "CEBPA_000017" "g.33792628G>C" "" "" "" "CEBPA(NM_001285829.1):c.336C>G (p.(Pro112=)), CEBPA(NM_004364.3):c.693C>G (p.P231=), CEBPA(NM_004364.5):c.693C>G (p.P231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692750" "0" "10" "19" "33792747" "33792752" "dup" "0" "01804" "CEBPA_000019" "g.33792747_33792752dup" "" "" "" "CEBPA(NM_001285829.1):c.227_232dup (p.(His76_Pro77dup)), CEBPA(NM_004364.5):c.584_589dupACCCGC (p.H195_P196dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692751" "0" "30" "19" "33792900" "33792900" "subst" "0" "01943" "CEBPA_000008" "g.33792900C>A" "" "" "" "CEBPA(NM_001285829.1):c.64G>T (p.G22C), CEBPA(NM_004364.5):c.421G>T (p.G141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969672" "0" "30" "19" "33792631" "33792631" "subst" "0.185633" "02329" "CEBPA_000003" "g.33792631C>A" "" "" "" "CEBPA(NM_001285829.1):c.333G>T (p.T111=), CEBPA(NM_004364.5):c.690G>T (p.T230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983363" "0" "30" "19" "33792919" "33792919" "subst" "0.00190658" "01804" "CEBPA_000009" "g.33792919C>T" "" "" "" "CEBPA(NM_001285829.1):c.45G>A (p.A15=), CEBPA(NM_004364.5):c.402G>A (p.(Ala134Ala), p.A134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027208" "0" "10" "19" "33792748" "33792748" "subst" "0" "02329" "CEBPA_000007" "g.33792748G>A" "" "" "" "CEBPA(NM_001285829.1):c.216C>T (p.(His72=)), CEBPA(NM_004364.3):c.573C>T (p.H191=), CEBPA(NM_004364.5):c.573C>T (p.H191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## 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 CEBPA ## Count = 31 "{{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}}" "0000266653" "00004924" "30" "402" "0" "402" "0" "c.402G>A" "r.(?)" "p.(Ala134=)" "" "0000268087" "00004924" "30" "24" "0" "24" "0" "c.24G>A" "r.(?)" "p.(Glu8=)" "" "0000268088" "00004924" "30" "311" "0" "313" "0" "c.311_313del" "r.(?)" "p.(Gly104del)" "" "0000268089" "00004924" "30" "421" "0" "421" "0" "c.421G>T" "r.(?)" "p.(Gly141Cys)" "" "0000268091" "00004924" "30" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Gly214Ser)" "" "0000269950" "00004924" "50" "175" "0" "175" "0" "c.175G>T" "r.(?)" "p.(Glu59Ter)" "" "0000269951" "00004924" "50" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87Ter)" "" "0000269952" "00004924" "10" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(His191=)" "" "0000269954" "00004924" "10" "690" "0" "690" "0" "c.690G>T" "r.(?)" "p.(Thr230=)" "" "0000269955" "00004924" "50" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Arg300Cys)" "" "0000566847" "00004924" "50" "1041" "0" "1041" "0" "c.1041G>A" "r.(?)" "p.(Glu347=)" "" "0000566848" "00004924" "10" "1041" "0" "1041" "0" "c.1041G>A" "r.(?)" "p.(Glu347=)" "" "0000566849" "00004924" "50" "949" "0" "950" "0" "c.949_950insGTC" "r.(?)" "p.(Glu316_Leu317insArg)" "" "0000566850" "00004924" "50" "756" "0" "756" "0" "c.756G>T" "r.(?)" "p.(Ala252=)" "" "0000566851" "00004924" "10" "756" "0" "756" "0" "c.756G>T" "r.(?)" "p.(Ala252=)" "" "0000566852" "00004924" "50" "693" "0" "693" "0" "c.693C>G" "r.(?)" "p.(Pro231=)" "" "0000566853" "00004924" "10" "693" "0" "693" "0" "c.693C>G" "r.(?)" "p.(Pro231=)" "" "0000566854" "00004924" "50" "590" "0" "591" "0" "c.590_591insACCCGC" "r.(?)" "p.(Pro198_Ala199dup)" "" "0000566856" "00004924" "10" "584" "0" "589" "0" "c.584_589dup" "r.(?)" "p.(His195_Pro196dup)" "" "0000566857" "00004924" "30" "-90" "0" "-90" "0" "c.-90C>T" "r.(?)" "p.(=)" "" "0000681361" "00004924" "10" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(His191=)" "" "0000681362" "00004924" "30" "402" "0" "402" "0" "c.402G>A" "r.(?)" "p.(Ala134=)" "" "0000681363" "00004924" "30" "402" "0" "402" "0" "c.402G>A" "r.(?)" "p.(Ala134=)" "" "0000692747" "00004924" "10" "1041" "0" "1041" "0" "c.1041G>A" "r.(?)" "p.(Glu347=)" "" "0000692748" "00004924" "10" "756" "0" "756" "0" "c.756G>T" "r.(?)" "p.(Ala252=)" "" "0000692749" "00004924" "10" "693" "0" "693" "0" "c.693C>G" "r.(?)" "p.(Pro231=)" "" "0000692750" "00004924" "10" "584" "0" "589" "0" "c.584_589dup" "r.(?)" "p.(His195_Pro196dup)" "" "0000692751" "00004924" "30" "421" "0" "421" "0" "c.421G>T" "r.(?)" "p.(Gly141Cys)" "" "0000969672" "00004924" "30" "690" "0" "690" "0" "c.690G>T" "r.(?)" "p.(Thr230=)" "" "0000983363" "00004924" "30" "402" "0" "402" "0" "c.402G>A" "r.(?)" "p.(Ala134=)" "" "0001027208" "00004924" "10" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(His191=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0