### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FBXW10) # 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}}" "FBXW10" "F-box and WD repeat domain containing 10" "17" "p11" "unknown" "NC_000017.10" "UD_132378586409" "" "https://www.LOVD.nl/FBXW10" "" "1" "1211" "10517" "611679" "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/FBXW10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-21 11:30:56" "00000" "2025-05-05 21:14:00" ## 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}}" "00025292" "FBXW10" "transcript variant 1" "002" "NM_001267585.1" "" "NP_001254514.1" "" "" "" "-232" "3210" "3159" "18647326" "18682662" "00006" "2018-06-21 11:30:25" "" "" ## 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}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "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 = 1 "{{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}}" "00165022" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00165022" "00091" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165892" "00165022" "1" "02509" "02509" "2018-06-20 16:57:20" "" "" "SEQ-NG-I" "DNA" "" "" ## 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 = 6 "{{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}}" "0000287346" "0" "50" "17" "18670143" "18670143" "subst" "0.000613334" "01943" "FBXW10_000001" "g.18670143G>A" "" "" "" "FBXW10(NM_001267585.1):c.1672G>A (p.V558M), FBXW10(NM_001267585.2):c.1672G>A (p.(Val558Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18766830G>A" "" "VUS" "" "0000369677" "0" "70" "17" "18653188" "18653188" "subst" "0.0672467" "02509" "FBXW10_000002" "g.18653188G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18749875G>T" "" "likely pathogenic" "" "0000369678" "0" "70" "17" "18671961" "18671961" "subst" "0.0764254" "02509" "FBXW10_000003" "g.18671961C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18768648C>T" "" "likely pathogenic" "" "0000982358" "0" "50" "17" "18668084" "18668084" "subst" "0.000541337" "01804" "FBXW10_000004" "g.18668084C>T" "" "" "" "FBXW10(NM_001267585.2):c.1463C>T (p.(Thr488Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982359" "0" "50" "17" "18670143" "18670143" "subst" "0.000613334" "01804" "FBXW10_000001" "g.18670143G>A" "" "" "" "FBXW10(NM_001267585.1):c.1672G>A (p.V558M), FBXW10(NM_001267585.2):c.1672G>A (p.(Val558Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041682" "0" "30" "17" "18647651" "18647651" "subst" "0.00228867" "01804" "FBXW10_000005" "g.18647651T>G" "" "" "" "FBXW10(NM_001267585.2):c.94T>G (p.(Cys32Gly))" "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 FBXW10 ## Count = 6 "{{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}}" "0000287346" "00025292" "50" "1672" "0" "1672" "0" "c.1672G>A" "r.(?)" "p.(Val558Met)" "" "0000369677" "00025292" "70" "824" "0" "824" "0" "c.824G>T" "r.(?)" "p.(Arg275Leu)" "" "0000369678" "00025292" "70" "1819" "0" "1819" "0" "c.1819C>T" "r.(?)" "p.(Arg607Cys)" "" "0000982358" "00025292" "50" "1463" "0" "1463" "0" "c.1463C>T" "r.(?)" "p.(Thr488Ile)" "" "0000982359" "00025292" "50" "1672" "0" "1672" "0" "c.1672G>A" "r.(?)" "p.(Val558Met)" "" "0001041682" "00025292" "30" "94" "0" "94" "0" "c.94T>G" "r.(?)" "p.(Cys32Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000165892" "0000369677" "0000165892" "0000369678"