### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RBFOX3) # 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}}" "RBFOX3" "RNA binding protein, fox-1 homolog (C. elegans) 3" "17" "q25.3" "unknown" "NC_000017.10" "UD_134753495149" "" "https://www.LOVD.nl/RBFOX3" "" "1" "27097" "146713" "616999" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-08-13 21:02:16" "00000" "2024-04-19 20:27:30" ## 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}}" "00001169" "RBFOX3" "RNA binding protein, fox-1 homolog (C. elegans) 3" "001" "NM_001082575.1" "" "NP_001076044.1" "" "" "" "-73" "2477" "939" "77085427" "77478563" "00000" "2012-09-13 13:15:52" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "" "" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00116916" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_337:0/1:CONTROL" "00117016" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_566:0/1:CONTROL" "00117088" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_705:0/1:TYPICAL_RE" "00334711" "" "" "" "6" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334712" "" "" "" "8" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00380381" "" "" "" "1" "" "00006" "{PMID:Stoltz 2021:34375587}" "" "M" "" "" "" "0" "" "" "" "A657T.2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00116916" "00000" "00117016" "00000" "00117088" "05315" "00334711" "04214" "00334712" "04214" "00380381" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 01157, 04214, 05315, 05611 ## Count = 3 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000092349" "05315" "00117088" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "0000274232" "05611" "00380381" "00006" "Isolated (sporadic)" "8y" "intellectual disability, developmental delay; uncoordinated gait; no hypotonia; no hypertonia; no visual impairment; no seizures" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000117384" "00116916" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117484" "00117016" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117560" "00117088" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000335940" "00334711" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000335941" "00334712" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000381595" "00380381" "1" "00006" "00006" "2021-08-13 20:56:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 11 "{{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}}" "0000005742" "3" "50" "17" "77254622" "77254622" "subst" "0" "00037" "RBFOX3_000001" "g.77254622C>G" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "" "" "" "" "" "VUS" "" "0000188229" "0" "50" "17" "77093814" "77093814" "subst" "0" "02192" "RBFOX3_000003" "g.77093814A>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000188401" "0" "50" "17" "77090608" "77090608" "subst" "0" "02192" "RBFOX3_000002" "g.77090608G>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "stopgain variant\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000188510" "0" "50" "17" "77097686" "77097686" "subst" "0.000204399" "02192" "RBFOX3_000004" "g.77097686G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000276155" "0" "30" "17" "77082105" "77082105" "subst" "0" "01943" "ENGASE_000002" "g.77082105C>A" "" "" "" "ENGASE(NM_001042573.2):c.1906C>A (p.R636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79086023C>A" "" "likely benign" "" "0000325671" "0" "50" "17" "77081337" "77081337" "subst" "0" "01804" "ENGASE_000001" "g.77081337G>A" "" "" "" "ENGASE(NM_001042573.2):c.1613G>A (p.(Ser538Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79085255G>A" "" "VUS" "" "0000341767" "0" "50" "17" "77102747" "77102747" "subst" "0" "02327" "RBFOX3_000006" "g.77102747G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79106665G>A" "" "VUS" "" "0000563315" "0" "30" "17" "77081387" "77081387" "subst" "1.65363E-5" "01943" "ENGASE_000006" "g.77081387C>T" "" "" "" "ENGASE(NM_001042573.2):c.1663C>T (p.R555C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79085305C>T" "" "likely benign" "" "0000734852" "0" "30" "17" "77111772" "77111772" "subst" "0" "00000" "RBFOX3_000007" "g.77111772T>G" "6/25 families" "{PMID:Maranhao 2015:26352687}" "" "RBFOX3:c.26A>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000734853" "0" "30" "17" "77111776" "77111776" "subst" "0.0180151" "00000" "RBFOX3_000008" "g.77111776C>G" "8/25 families" "{PMID:Maranhao 2015:26352687}" "" "RBFOX3:c.22G>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000795085" "0" "50" "17" "77102747" "77102747" "subst" "0" "00006" "RBFOX3_000006" "g.77102747G>A" "" "{PMID:Stoltz 2021:34375587}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "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 RBFOX3 ## Count = 11 "{{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}}" "0000005742" "00001169" "50" "-73" "-22735" "-73" "-22735" "c.-73-22735G>C" "" "p.(=)" "" "0000188229" "00001169" "00" "582" "0" "582" "0" "c.582T>G" "r.(?)" "p.(Asn194Lys)" "" "0000188401" "00001169" "00" "861" "0" "861" "0" "c.861C>A" "r.(?)" "p.(Tyr287*)" "" "0000188510" "00001169" "00" "548" "0" "548" "0" "c.548C>T" "r.(?)" "p.(Thr183Met)" "" "0000276155" "00001169" "30" "5799" "0" "5799" "0" "c.*4860G>T" "r.(=)" "p.(=)" "" "0000325671" "00001169" "50" "6567" "0" "6567" "0" "c.*5628C>T" "r.(=)" "p.(=)" "" "0000341767" "00001169" "50" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Trp)" "" "0000563315" "00001169" "30" "6517" "0" "6517" "0" "c.*5578G>A" "r.(=)" "p.(=)" "" "0000734852" "00001169" "30" "26" "0" "26" "0" "c.26A>C" "" "" "" "0000734853" "00001169" "30" "22" "0" "22" "0" "c.22G>C" "" "" "" "0000795085" "00001169" "50" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005742" "0000117384" "0000188229" "0000117484" "0000188510" "0000117560" "0000188401" "0000335940" "0000734852" "0000335941" "0000734853" "0000381595" "0000795085"