### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAPGEF2) # 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}}" "RAPGEF2" "Rap guanine nucleotide exchange factor (GEF) 2" "4" "q32.1" "unknown" "NG_063926.1" "UD_136090486479" "" "https://www.LOVD.nl/RAPGEF2" "" "1" "16854" "9693" "609530" "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/RAPGEF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-19 16:59:09" "00000" "2020-06-16 16:29:34" ## 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}}" "00017423" "RAPGEF2" "Rap guanine nucleotide exchange factor (GEF) 2" "001" "NM_014247.2" "" "NP_055062.1" "" "" "" "-310" "6511" "4500" "160188998" "160281302" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "05408" "FAME" "epilepsy, myoclonic, familial adult (FAME)" "" "" "" "autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course" "alias familial essential myoclonus and epilepsy; cortical tremor; benign adult familial myoclonic epilepsy (BAFME); familial adult myoclonic epilepsy (FAME); autosomal dominant cortical tremor, myoclonus and epilepsy; familial cortical myoclonic tremor with epilepsy (FCMTE)" "00006" "2018-03-18 16:17:05" "00006" "2021-10-25 15:27:58" "05590" "FAME7;FMCTE7" "epilepsy, myoclonic, familial adult, type 7 (FAME7, FMCTE7)" "AD" "618075" "" "" "" "00006" "2019-04-10 21:14:40" "00006" "2019-12-19 19:19:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RAPGEF2" "05408" "RAPGEF2" "05590" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00271470" "" "" "" "2" "" "00006" "{PMID:Ishiura 2018:29507423}" "2-generation family, 1 affected" "M" "no" "Japan" "" "0" "" "" "" "F8241" "00271472" "" "" "00271470" "1" "" "00006" "{PMID:Ishiura 2018:29507423}" "healthy older sister PatIII2" "F" "" "Japan" "" "0" "" "" "" "F8241PatIII1" "00271482" "" "" "" "6" "" "00006" "{PMID:Lei 2019:30351492}" "4-generation family, 6 affected (4F, 2M)" "M" "" "China" "" "0" "" "treatment sodium valproate effective" "" "Fam3PatII8" "00271483" "" "" "00271482" "1" "" "00006" "{PMID:Lei 2019:30351492}" "" "M" "" "China" "" "0" "" "treatment sodium valproate effective" "" "Fam3PatIII4" "00271484" "" "" "" "1" "" "00006" "{PMID:Lei 2019:30351492}" "" "M" "" "China" "" "0" "" "treatment sodium valproate effective (except for myoclonic tremor)" "" "Fam3PatIII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00271470" "05408" "00271472" "00000" "00271482" "05408" "00271483" "05408" "00271484" "05408" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 05408, 05590 ## Count = 4 "{{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}}" "0000208063" "05408" "00271470" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "FAME7" "familial cortical myoclonic tremor" "0000208071" "05408" "00271482" "00006" "Familial, autosomal dominant" "63y" "30y-onset myoclonic tremor; 31y-onset seizures; generalized seizures, 3 seizures/month" "" "" "" "" "" "" "" "FAME7" "familial cortical myoclonic tremor with epilepsy" "0000208072" "05408" "00271483" "00006" "Familial, autosomal dominant" "31y" "29y-onset myoclonic tremor; 23y-onset seizures; generalized seizures, 3 seizures/8 years; EEG burst of or continuous generalized spike and wave complexes or generalized polyspike and wave complexes" "" "" "" "" "" "" "" "FAME7" "familial cortical myoclonic tremor with epilepsy" "0000208073" "05408" "00271484" "00006" "Familial, autosomal dominant" "53y" "37y-onset myoclonic tremor; 37y-onset seizures; generalized seizures, 20 seizures/15 years" "" "" "" "" "" "" "" "FAME7" "familial cortical myoclonic tremor with epilepsy" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000272623" "00271470" "1" "00006" "00006" "2019-12-19 17:03:29" "" "" "PCRrp;SEQ;Southern" "DNA" "" "" "0000272626" "00271472" "1" "00006" "00006" "2019-12-19 17:19:58" "" "" "PCRrp;SEQ;Southern" "DNA" "" "" "0000272636" "00271482" "1" "00006" "00006" "2019-12-19 19:40:57" "" "" "PCRrp" "DNA" "" "" "0000272637" "00271483" "1" "00006" "00006" "2019-12-19 19:40:57" "" "" "PCRrp" "DNA" "" "" "0000272638" "00271484" "1" "00006" "00006" "2019-12-19 19:40:57" "" "" "PCRrp" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000272623" "RAPGEF2" "0000272626" "RAPGEF2" "0000272636" "RAPGEF2" "0000272637" "RAPGEF2" "0000272638" "RAPGEF2" ## 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 = 8 "{{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}}" "0000521952" "0" "30" "4" "160243503" "160243503" "subst" "0" "01804" "RAPGEF2_000002" "g.160243503A>C" "" "" "" "RAPGEF2(NM_014247.2):c.375A>C (p.(Gln125His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.159322351A>C" "" "likely benign" "" "0000626560" "10" "90" "4" "0" "0" "" "0" "00006" "RAPGEF2_000006" "g.160263679_160263768TTTTA[exp]TTTCA[exp]TTTTA[n]" "" "{PMID:Ishiura 2018:29507423}" "" "" "expanded allele about 11 kb" "Germline" "" "" "0" "" "" "g.159342527_159342616TTTTA[exp]TTTCA[exp]TTTTA[n]" "" "pathogenic (dominant)" "" "0000626562" "10" "30" "4" "0" "0" "" "0" "00006" "RAPGEF2_000007" "g.160263679_160263768TTTTA[(20_2460)]" "" "{PMID:Ishiura 2018:29507423}" "" "" "" "De novo" "" "" "0" "" "" "g.159342527_159342616TTTTA[(20_2460)]" "" "likely benign" "" "0000626568" "21" "30" "4" "160263679" "160263768" "" "0" "00006" "RAPGEF2_000008" "g.160263679_160263768TTTTA[5]TATTA[1]TTTTA[11]" "" "{PMID:Ishiura 2018:29507423}" "" "" "" "Germline" "" "" "0" "" "" "g.159342527_159342616TTTTA[5]TATTA[1]TTTTA[11]" "" "benign" "" "0000626569" "21" "10" "4" "160263679" "160263768" "" "0" "00006" "RAPGEF2_000009" "g.160263679_160263768TTTTA[7]TATTA[1]TTTTA[14]" "" "" "" "" "{PMID:Ishiura 2018:29507423}" "Germline" "" "" "0" "" "" "g.159342527_159342616TTTTA[7]TATTA[1]TTTTA[14]" "" "benign" "" "0000626577" "1" "90" "4" "160263679" "160263768" "" "0" "00006" "RAPGEF2_000010" "g.160263679_160263768TTTTA[60]" "" "{PMID:Lei 2019:30351492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.159342527_159342616TTTTA[60]" "" "pathogenic (dominant)" "" "0000626578" "1" "90" "4" "160263679" "160263768" "" "0" "00006" "RAPGEF2_000010" "g.160263679_160263768TTTTA[60]" "" "{PMID:Lei 2019:30351492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.159342527_159342616TTTTA[60]" "" "pathogenic (dominant)" "" "0000626579" "1" "90" "4" "160263679" "160263768" "" "0" "00006" "RAPGEF2_000010" "g.160263679_160263768TTTTA[60]" "" "{PMID:Lei 2019:30351492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.159342527_159342616TTTTA[60]" "" "pathogenic (dominant)" "" ## 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 RAPGEF2 ## Count = 8 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000521952" "00017423" "30" "375" "0" "375" "0" "c.375A>C" "r.(?)" "p.(Gln125His)" "" "" "0000626560" "00017423" "90" "0" "0" "0" "0" "c.2436-452_2436-363TTTTA[exp]TTTCA[exp]TTTTA[n]" "r.(=)" "p.(=)" "14i" "TTTTA[exp]TTTCA[exp]TTTTA[n]" "0000626562" "00017423" "30" "0" "0" "0" "0" "c.2436-452_2436-363TTTTA[(20_2460)]" "r.(=)" "p.(=)" "14i" "TTTTA[(20_2460)]" "0000626568" "00017423" "30" "2436" "-452" "2436" "-363" "c.2436-452_2436-363TTTTA[5]TATTA[1]TTTTA[11]" "r.(=)" "p.(=)" "14i" "TTTTA[5]TATTA[1]TTTTA[11]" "0000626569" "00017423" "10" "2436" "-452" "2436" "-363" "c.2436-452_2436-363TTTTA[7]TATTA[1]TTTTA[14]" "r.(=)" "p.(=)" "14i" "TTTTA[7]TATTA[1]TTTTA[14]" "0000626577" "00017423" "90" "2436" "-452" "2436" "-363" "c.2436-452_2436-363TTTTA[60]" "r.(=)" "p.(=)" "" "TTTTA[60]" "0000626578" "00017423" "90" "2436" "-452" "2436" "-363" "c.2436-452_2436-363TTTTA[60]" "r.(=)" "p.(=)" "" "TTTTA[60]" "0000626579" "00017423" "90" "2436" "-452" "2436" "-363" "c.2436-452_2436-363TTTTA[60]" "r.(=)" "p.(=)" "" "TTTTA[60]" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000272623" "0000626560" "0000272623" "0000626568" "0000272626" "0000626562" "0000272626" "0000626569" "0000272636" "0000626577" "0000272637" "0000626578" "0000272638" "0000626579"