### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FBXW11) # 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}}" "FBXW11" "F-box and WD repeat domain containing 11" "5" "q35.1" "unknown" "NG_009275.2" "UD_132118996202" "" "https://www.LOVD.nl/FBXW11" "" "1" "13607" "23291" "605651" "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/FBXW11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-11 12:47:28" "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}}" "00007832" "FBXW11" "transcript variant 3" "003" "NM_012300.2" "" "NP_036432.2" "" "" "" "-371" "4204" "1629" "171433877" "171288556" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00261154" "" "" "" "1" "" "00006" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "F" "" "" "" "0" "" "" "" "Pat1" "00261155" "" "" "" "1" "" "00006" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "M" "" "United States" "" "0" "" "" "" "Pat2" "00261156" "" "" "" "1" "" "00006" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "M" "" "" "" "0" "" "" "" "Pat3" "00261157" "" "" "" "1" "" "00006" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "F" "" "" "" "0" "" "" "" "Pat4" "00261158" "" "" "" "1" "" "00006" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "F" "" "" "" "0" "" "" "" "Pat5" "00261159" "" "" "" "1" "" "00006" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "M" "" "United States" "" "0" "" "" "" "Pat6" "00261160" "" "" "" "1" "" "00006" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "M" "" "" "" "0" "" "" "" "Pat7" "00261161" "" "" "" "1" "" "00006" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "" "" "0" "" "" "" "control" "00261162" "" "" "" "1" "" "00006" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "" "" "0" "" "" "" "control" "00261163" "" "" "" "1" "" "00006" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "" "" "0" "" "" "" "control" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00261154" "00198" "00261155" "00198" "00261156" "00198" "00261157" "00198" "00261158" "00198" "00261159" "00198" "00261160" "00198" "00261161" "00000" "00261162" "00000" "00261163" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000199663" "00198" "00261154" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000199664" "00198" "00261155" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000199665" "00198" "00261156" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000199666" "00198" "00261157" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000199667" "00198" "00261158" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000199668" "00198" "00261159" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000199669" "00198" "00261160" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000262259" "00261154" "1" "00006" "00006" "2019-08-11 10:55:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262260" "00261155" "1" "00006" "00006" "2019-08-11 10:55:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262261" "00261156" "1" "00006" "00006" "2019-08-11 10:55:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262262" "00261157" "1" "00006" "00006" "2019-08-11 10:55:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262263" "00261158" "1" "00006" "00006" "2019-08-11 10:55:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262264" "00261159" "1" "00006" "00006" "2019-08-11 10:55:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262265" "00261160" "1" "00006" "00006" "2019-08-11 10:55:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262266" "00261161" "1" "00006" "00006" "2019-08-11 11:06:33" "" "" "SEQ" "DNA" "" "" "0000262267" "00261162" "1" "00006" "00006" "2019-08-11 11:06:33" "" "" "SEQ" "DNA" "" "" "0000262268" "00261163" "1" "00006" "00006" "2019-08-11 11:06:33" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000262259" "FBXW11" "0000262260" "FBXW11" "0000262261" "FBXW11" "0000262262" "FBXW11" "0000262263" "FBXW11" "0000262264" "FBXW11" "0000262265" "FBXW11" "0000262266" "FBXW11" "0000262267" "FBXW11" "0000262268" "FBXW11" ## 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 = 25 "{{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}}" "0000592529" "0" "70" "5" "171303360" "171303360" "subst" "0" "00006" "FBXW11_000009" "g.171303360G>A" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "De novo" "" "" "0" "" "" "g.171876356G>A" "" "likely pathogenic (dominant)" "" "0000592530" "0" "70" "5" "171303356" "171303356" "subst" "0" "00006" "FBXW11_000008" "g.171303356G>T" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "De novo" "" "" "0" "" "" "g.171876352G>T" "" "likely pathogenic (dominant)" "" "0000592531" "0" "70" "5" "171303354" "171303354" "subst" "0" "00006" "FBXW11_000007" "g.171303354C>T" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "De novo" "" "" "0" "" "" "g.171876350C>T" "" "likely pathogenic (dominant)" "" "0000592532" "0" "70" "5" "171297810" "171297810" "subst" "0" "00006" "FBXW11_000006" "g.171297810C>T" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "De novo" "" "" "0" "" "" "g.171870806C>T" "" "likely pathogenic (dominant)" "" "0000592533" "0" "70" "5" "171297800" "171297800" "subst" "0" "00006" "FBXW11_000004" "g.171297800C>T" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "De novo" "" "" "0" "" "" "g.171870796C>T" "" "likely pathogenic (dominant)" "" "0000592534" "0" "70" "5" "171297800" "171297800" "subst" "0" "00006" "FBXW11_000005" "g.171297800C>A" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "De novo" "" "" "0" "" "" "g.171870796C>A" "" "likely pathogenic (dominant)" "" "0000592535" "0" "70" "5" "171318536" "171318536" "subst" "0" "00006" "FBXW11_000010" "g.171318536C>G" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "" "" "De novo" "" "" "0" "" "" "g.171891532C>G" "" "likely pathogenic (dominant)" "" "0000592536" "1" "30" "5" "171288698" "171288698" "dup" "0" "00006" "FBXW11_000001" "g.171288698dup" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "*4064_*4065insT" "" "Germline" "" "" "0" "" "" "g.171861694dup" "" "likely benign" "" "0000592537" "1" "30" "5" "171289855" "171289855" "subst" "0" "00006" "FBXW11_000002" "g.171289855C>T" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "c.*2867G>A" "" "Germline" "" "" "0" "" "" "g.171862851C>T" "" "likely benign" "" "0000592538" "1" "30" "5" "171290168" "171290168" "subst" "0" "00006" "FBXW11_000003" "g.171290168G>A" "" "{DOI:Holt 2019:10.1016/j.ajhg.2019.07.005}" "" "c.*2592C>T" "" "Germline" "" "" "0" "" "" "g.171863164G>A" "" "likely benign" "" "0000621531" "0" "30" "5" "171384691" "171384691" "subst" "0" "01943" "FBXW11_000011" "g.171384691T>C" "" "" "" "FBXW11(NM_012300.2):c.57A>G (p.P19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171957687T>C" "" "likely benign" "" "0000720336" "0" "50" "5" "171318487" "171318487" "subst" "0" "01804" "FBXW11_000012" "g.171318487C>T" "" "" "" "FBXW11(NM_012300.2):c.773G>A (p.(Arg258Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802028" "0" "50" "5" "171295802" "171295802" "subst" "0" "02327" "FBXW11_000013" "g.171295802T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859870" "0" "50" "5" "171303521" "171303521" "subst" "1.22065E-5" "01943" "FBXW11_000014" "g.171303521G>A" "" "" "" "FBXW11(NM_012300.2):c.926C>T (p.T309M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886749" "0" "50" "5" "171299942" "171299942" "dup" "0" "02327" "FBXW11_000015" "g.171299942dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924306" "0" "50" "5" "171305021" "171305021" "subst" "8.15215E-6" "02329" "FBXW11_000016" "g.171305021G>A" "" "" "" "FBXW11(NM_001378976.1):c.869C>T (p.T290M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924307" "0" "30" "5" "171337826" "171337826" "dup" "0" "02325" "FBXW11_000017" "g.171337826dup" "" "" "" "FBXW11(NM_012300.3):c.148-16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929051" "0" "50" "5" "171303467" "171303467" "subst" "0" "02327" "FBXW11_000018" "g.171303467C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976709" "0" "30" "5" "171305137" "171305137" "subst" "1.22785E-5" "01804" "FBXW11_000019" "g.171305137T>C" "" "" "" "FBXW11(NM_001378974.1):c.853-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994862" "0" "30" "5" "171295676" "171295676" "subst" "1.22061E-5" "01804" "FBXW11_000020" "g.171295676C>T" "" "" "" "FBXW11(NM_012300.2):c.1592G>A (p.(Arg531His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994863" "0" "50" "5" "171318529" "171318529" "subst" "0" "02325" "FBXW11_000021" "g.171318529T>C" "" "" "" "FBXW11(NM_012300.3):c.731A>G (p.Y244C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994864" "0" "30" "5" "171326957" "171326957" "subst" "4.06971E-6" "01804" "FBXW11_000022" "g.171326957G>C" "" "" "" "FBXW11(NM_033644.2):c.482C>G (p.(Thr161Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025065" "0" "50" "5" "171299942" "171299942" "subst" "4.06547E-6" "02329" "FBXW11_000023" "g.171299942C>T" "" "" "" "FBXW11(NM_012300.3):c.1211G>A (p.R404Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035086" "0" "30" "5" "171305636" "171305637" "dup" "0" "01804" "FBXW11_000024" "g.171305636_171305637dup" "" "" "" "FBXW11(NM_001378974.1):c.853-476_853-475dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052196" "0" "50" "5" "171303284" "171303284" "subst" "4.09219E-6" "01804" "FBXW11_000025" "g.171303284C>T" "" "" "" "FBXW11(NM_001378974.1):c.1221+5G>A" "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 FBXW11 ## Count = 25 "{{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}}" "0000592529" "00007832" "70" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Trp)" "" "0000592530" "00007832" "70" "1091" "0" "1091" "0" "c.1091C>A" "r.(?)" "p.(Ala364Asp)" "" "0000592531" "00007832" "70" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Ala365Thr)" "" "0000592532" "00007832" "70" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Glu444Lys)" "" "0000592533" "00007832" "70" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447Gln)" "" "0000592534" "00007832" "70" "1340" "0" "1340" "0" "c.1340G>T" "r.(?)" "p.(Arg447Leu)" "" "0000592535" "00007832" "70" "724" "0" "724" "0" "c.724G>C" "r.(?)" "p.(Gly242Arg)" "" "0000592536" "00007832" "30" "4064" "0" "4064" "0" "c.*2435dup" "r.(=)" "p.(=)" "" "0000592537" "00007832" "30" "2905" "0" "2905" "0" "c.*1276G>A" "r.(=)" "p.(=)" "" "0000592538" "00007832" "30" "2592" "0" "2592" "0" "c.*963C>T" "r.(=)" "p.(=)" "" "0000621531" "00007832" "30" "57" "0" "57" "0" "c.57A>G" "r.(?)" "p.(Pro19=)" "" "0000720336" "00007832" "50" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Arg258Gln)" "" "0000802028" "00007832" "50" "1468" "-2" "1468" "-2" "c.1468-2A>G" "r.spl?" "p.?" "" "0000859870" "00007832" "50" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Thr309Met)" "" "0000886749" "00007832" "50" "1214" "0" "1214" "0" "c.1214dup" "r.(?)" "p.(Ile406Hisfs*13)" "" "0000924306" "00007832" "50" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Thr301Met)" "" "0000924307" "00007832" "30" "148" "-16" "148" "-16" "c.148-16dup" "r.(=)" "p.(=)" "" "0000929051" "00007832" "50" "980" "0" "980" "0" "c.980G>C" "r.(?)" "p.(Arg327Pro)" "" "0000976709" "00007832" "30" "790" "-4" "790" "-4" "c.790-4A>G" "r.spl?" "p.?" "" "0000994862" "00007832" "30" "1592" "0" "1592" "0" "c.1592G>A" "r.(?)" "p.(Arg531His)" "" "0000994863" "00007832" "50" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Tyr244Cys)" "" "0000994864" "00007832" "30" "521" "0" "521" "0" "c.521C>G" "r.(?)" "p.(Thr174Ser)" "" "0001025065" "00007832" "50" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Arg404Gln)" "" "0001035086" "00007832" "30" "790" "-476" "790" "-475" "c.790-476_790-475dup" "r.(=)" "p.(=)" "" "0001052196" "00007832" "50" "1158" "5" "1158" "5" "c.1158+5G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000262259" "0000592529" "0000262260" "0000592530" "0000262261" "0000592531" "0000262262" "0000592532" "0000262263" "0000592533" "0000262264" "0000592534" "0000262265" "0000592535" "0000262266" "0000592536" "0000262267" "0000592537" "0000262268" "0000592538"