### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NPM1) # 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}}" "NPM1" "nucleophosmin (nucleolar phosphoprotein B23, numatrin)" "5" "q35.1" "unknown" "NG_016018.1" "UD_132118947134" "" "http://www.LOVD.nl/NPM1" "" "1" "7910" "4869" "164040" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NPM1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-11-18 09:36:36" "00000" "2025-11-01 13:22:20" ## 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}}" "00014742" "NPM1" "transcript variant 1" "001" "NM_002520.6" "" "NP_002511.1" "" "" "" "-245" "1204" "885" "170814708" "170837888" "" "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}}" "NPM1" "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 = 12 "{{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}}" "0000330730" "0" "30" "5" "170837526" "170837526" "subst" "0.00406" "01804" "NPM1_000001" "g.170837526T>C" "" "" "" "NPM1(NM_001037738.2):c.*4117T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171410522T>C" "" "likely benign" "" "0000525169" "0" "50" "5" "170837540" "170837541" "ins" "0" "02326" "NPM1_000006" "g.170837540_170837541insTCTG" "" "" "" "NPM1(NM_002520.6):c.856_857insTCTG (p.D286Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171410536_171410537insTCTG" "" "VUS" "" "0000525170" "0" "90" "5" "170837547" "170837548" "ins" "0" "02326" "NPM1_000007" "g.170837547_170837548insCGTG" "" "" "" "NPM1(NM_002520.6):c.863_864insCGTG (p.W288Cfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171410543_171410544insCGTG" "" "pathogenic" "" "0000795128" "0" "30" "5" "170814971" "170814971" "subst" "2.8543E-5" "03779" "NPM1_000009" "g.170814971A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs772365842" "0" "" "" "" "" "likely benign" "" "0000886747" "0" "10" "5" "170837526" "170837526" "dup" "0" "02326" "NPM1_000010" "g.170837526dup" "" "" "" "NPM1(NM_002520.6):c.847-5dupT, NPM1(NM_002520.7):c.847-5dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886748" "0" "90" "5" "170837544" "170837547" "dup" "0" "02327" "NPM1_000011" "g.170837544_170837547dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976707" "0" "30" "5" "170814991" "170814991" "subst" "0.000551583" "01804" "NPM1_000012" "g.170814991G>A" "" "" "" "NPM1(NM_002520.7):c.39G>A (p.(Arg13=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976708" "0" "30" "5" "170837526" "170837526" "dup" "0" "01804" "NPM1_000010" "g.170837526dup" "" "" "" "NPM1(NM_002520.6):c.847-5dupT, NPM1(NM_002520.7):c.847-5dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994861" "0" "50" "5" "170827170" "170827172" "del" "0" "01804" "NPM1_000013" "g.170827170_170827172del" "" "" "" "NPM1(NM_002520.6):c.538_540delGAT (p.(Asp180del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035084" "0" "30" "5" "170819911" "170819911" "subst" "0" "01804" "NPM1_000014" "g.170819911T>C" "" "" "" "NPM1(NM_002520.7):c.460-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035085" "0" "30" "5" "170837528" "170837528" "dup" "0" "01804" "NPM1_000015" "g.170837528dup" "" "" "" "NPM1(NM_002520.7):c.847-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052195" "0" "30" "5" "170815020" "170815020" "subst" "0.000455542" "01804" "NPM1_000016" "g.170815020G>T" "" "" "" "NPM1(NM_002520.7):c.58+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 NPM1 ## Count = 12 "{{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}}" "0000330730" "00014742" "30" "847" "-5" "847" "-5" "c.847-5T>C" "r.spl?" "p.?" "" "0000525169" "00014742" "50" "856" "0" "857" "0" "c.856_857insTCTG" "r.(?)" "p.(Asp286ValfsTer2)" "" "0000525170" "00014742" "90" "863" "0" "864" "0" "c.863_864insCGTG" "r.(?)" "p.(Trp288CysfsTer12)" "" "0000795128" "00014742" "30" "19" "0" "19" "0" "c.19A>G" "r.(?)" "p.(Met7Val)" "" "0000886747" "00014742" "10" "847" "-5" "847" "-5" "c.847-5dup" "r.spl?" "p.?" "" "0000886748" "00014742" "90" "860" "0" "863" "0" "c.860_863dup" "r.(?)" "p.(Trp288Cysfs*12)" "" "0000976707" "00014742" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(=)" "" "0000976708" "00014742" "30" "847" "-5" "847" "-5" "c.847-5dup" "r.spl?" "p.?" "" "0000994861" "00014742" "50" "538" "0" "540" "0" "c.538_540del" "r.(?)" "p.(Asp180del)" "" "0001035084" "00014742" "30" "460" "-7" "460" "-7" "c.460-7T>C" "r.(=)" "p.(=)" "" "0001035085" "00014742" "30" "847" "-3" "847" "-3" "c.847-3dup" "r.spl?" "p.?" "" "0001052195" "00014742" "30" "58" "10" "58" "10" "c.58+10G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0