### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SF3B1) # 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}}" "SF3B1" "splicing factor 3b, subunit 1, 155kDa" "2" "q33.1" "unknown" "NC_000002.11" "UD_133485339100" "" "https://www.LOVD.nl/SF3B1" "" "1" "10768" "23451" "605590" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-10-09 16:46:14" "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}}" "00026017" "SF3B1" "transcript variant 1 (expired, new version available)" "003" "NM_012433.4" "" "NP_036565.2" "" "" "MANE select" "-48" "4244" "3915" "198299771" "198256698" "00006" "2025-10-09 16:36:21" "" "" ## 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}}" "00132" "MDS" "myelodysplastic syndrome (MDS)" "SMo" "614286" "" "" "" "00006" "2013-05-17 15:26:22" "00006" "2024-05-24 16:19:35" "04254" "CLP" "cleft lip, cleft palate (CLP)" "" "" "" "" "" "00006" "2015-05-08 09:59:28" "00006" "2015-05-08 10:00:15" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SF3B1" "00132" ## 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}}" "00467260" "" "" "" "1" "" "04760" "CLP-1116-3" "" "F" "no" "" "" "" "" "" "" "CLP-1116-3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00467260" "04254" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00132, 04254 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000352471" "04254" "00467260" "04760" "Isolated (sporadic)" "12y" "posterior cleft palate" "" "" "" "" "" "" "" "" "" ## 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}}" "0000468927" "00467260" "1" "04760" "04760" "2025-10-09 15:00:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (whole exome sequencing) Sanger" ## 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 = 5 "{{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}}" "0000858226" "0" "30" "2" "198272806" "198272806" "subst" "0.00208486" "01804" "SF3B1_000015" "g.198272806A>C" "" "" "" "SF3B1(NM_012433.2):c.1155T>G (p.(Ala385=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197408082A>C" "" "likely benign" "" "0000974848" "0" "30" "2" "198256919" "198256919" "subst" "0" "01804" "SF3B1_000016" "g.198256919A>G" "" "" "" "SF3B1(NM_012433.4):c.*108T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197392195A>G" "" "likely benign" "" "0000992351" "0" "30" "2" "198267558" "198267558" "subst" "0.000407193" "01804" "SF3B1_000017" "g.198267558G>A" "" "" "" "SF3B1(NM_012433.2):c.1807-8C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197402834G>A" "" "likely benign" "" "0001032883" "0" "50" "2" "198270013" "198270013" "del" "0" "01804" "SF3B1_000018" "g.198270013del" "" "" "" "SF3B1(NM_012433.4):c.1425del (p.(Phe475Leufs*23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197405289del" "" "VUS" "" "0001048964" "11" "70" "2" "198266141" "198266141" "subst" "0" "04760" "SF3B1_000019" "g.198266141T>C" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.197401417T>C" "" "likely pathogenic" "ACMG" ## 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 SF3B1 ## Count = 5 "{{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}}" "0000858226" "00026017" "30" "1155" "0" "1155" "0" "c.1155T>G" "r.(?)" "p.(Ala385=)" "" "0000974848" "00026017" "30" "4023" "0" "4023" "0" "c.*108T>C" "r.(=)" "p.(=)" "" "0000992351" "00026017" "30" "1807" "-8" "1807" "-8" "c.1807-8C>T" "r.(=)" "p.(=)" "" "0001032883" "00026017" "50" "1425" "0" "1425" "0" "c.1425del" "r.(?)" "p.(Phe475Leufs*23)" "" "0001048964" "00026017" "70" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Arg827Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000468927" "0001048964"