### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = G3BP1) # 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}}" "G3BP1" "GTPase activating protein (SH3 domain) binding protein 1" "5" "q33.1" "unknown" "NC_000005.9" "UD_136074305535" "" "https://www.LOVD.nl/G3BP1" "" "1" "30292" "10146" "608431" "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/G3BP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-01 16:23:47" "00006" "2025-12-01 19:25:00" ## 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}}" "00008245" "G3BP1" "transcript variant 1" "001" "NM_005754.2" "" "NP_005745.1" "" "" "" "-171" "2664" "1401" "151151476" "151184915" "" "0000-00-00 00:00:00" "" "" ## 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}}" "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 = 1 "{{geneid}}" "{{diseaseid}}" "G3BP1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00470339" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "Netherlands" "" "0" "" "" "" "rumc_patient_1467" "00470340" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Yuen 2017:28263302}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "3-0134-000" "00470341" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DDD13k.00289" "00470342" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "96466" "00470343" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "84054" "00470344" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "32631" "00470345" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "27142" "00470346" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Pamela 2019:31452935}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "SP0042629" "00470347" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Takata 2018:29346770}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00470339" "05611" "00470340" "05611" "00470341" "05611" "00470342" "05611" "00470343" "05611" "00470344" "05611" "00470345" "05611" "00470346" "05611" "00470347" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000355488" "05611" "00470339" "00006" "Unknown" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000355489" "05611" "00470340" "00006" "Unknown" "" "see paper; ..., autism spectrum disorder" "" "" "" "" "" "" "" "autism spectrum disorder" "0000355490" "05611" "00470341" "00006" "Unknown" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000355491" "05611" "00470342" "00006" "Unknown" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000355492" "05611" "00470343" "00006" "Unknown" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000355493" "05611" "00470344" "00006" "Unknown" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000355494" "05611" "00470345" "00006" "Unknown" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000355495" "05611" "00470346" "00006" "Unknown" "" "see paper; ..., autism spectrum disorder" "" "" "" "" "" "" "" "autism spectrum disorder" "0000355496" "05611" "00470347" "00006" "Unknown" "" "see paper; ..., autism spectrum disorder" "" "" "" "" "" "" "" "autism spectrum disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000472006" "00470339" "1" "00006" "00006" "2025-12-01 19:22:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472007" "00470340" "1" "00006" "00006" "2025-12-01 19:22:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000472008" "00470341" "1" "00006" "00006" "2025-12-01 19:22:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472009" "00470342" "1" "00006" "00006" "2025-12-01 19:22:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472010" "00470343" "1" "00006" "00006" "2025-12-01 19:22:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472011" "00470344" "1" "00006" "00006" "2025-12-01 19:22:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472012" "00470345" "1" "00006" "00006" "2025-12-01 19:22:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472013" "00470346" "1" "00006" "00006" "2025-12-01 19:22:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472014" "00470347" "1" "00006" "00006" "2025-12-01 19:22:18" "" "" "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 = 10 "{{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}}" "0001025059" "0" "50" "5" "151179469" "151179469" "subst" "0" "02325" "G3BP1_000001" "g.151179469C>T" "" "" "" "G3BP1(NM_198395.2):c.863C>T (p.P288L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151799908C>T" "" "VUS" "" "0001060406" "0" "50" "5" "151166259" "151166259" "subst" "4.0662E-6" "00006" "G3BP1_000002" "g.151166259C>T" "" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "c.C78T" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.151786698C>T" "" "VUS" "" "0001060407" "0" "70" "5" "151166277" "151166277" "subst" "0" "00006" "G3BP1_000003" "g.151166277G>A" "" "{PMID:Jia 2022:35977029}, {PMID:Yuen 2017:28263302}" "" "" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.151786716G>A" "" "likely pathogenic (dominant)" "" "0001060408" "0" "70" "5" "151170504" "151170504" "subst" "2.03151E-5" "00006" "G3BP1_000004" "g.151170504C>T" "" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "c.C232T" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.151790943C>T" "" "likely pathogenic (dominant)" "" "0001060409" "0" "70" "5" "151170624" "151170624" "subst" "0" "00006" "G3BP1_000005" "g.151170624G>T" "" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "c.353+1G>T" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.151791063G>T" "" "likely pathogenic (dominant)" "" "0001060410" "0" "70" "5" "151173763" "151173763" "subst" "0" "00006" "G3BP1_000006" "g.151173763G>T" "" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "c.G395T" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.151794202G>T" "" "likely pathogenic (dominant)" "" "0001060411" "0" "70" "5" "151175137" "151175137" "subst" "0" "00006" "G3BP1_000007" "g.151175137G>A" "" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.151795576G>A" "" "likely pathogenic (dominant)" "" "0001060412" "0" "70" "5" "151176871" "151176871" "subst" "0" "00006" "G3BP1_000008" "g.151176871C>G" "" "{PMID:Jia 2022:35977029}, {PMID:Pamela 2019:31452935}" "" "c.C623G" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.151797310C>G" "" "likely pathogenic (dominant)" "" "0001060413" "0" "70" "5" "151179781" "151179781" "subst" "1.2207E-5" "00006" "G3BP1_000009" "g.151179781C>T" "" "{PMID:Jia 2022:35977029}, {PMID:Pamela 2019:31452935}" "" "c.C958T" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.151800220C>T" "" "likely pathogenic (dominant)" "" "0001060414" "0" "70" "5" "151180332" "151180332" "subst" "0" "00006" "G3BP1_000010" "g.151180332G>A" "" "{PMID:Jia 2022:35977029}, {PMID:Takata 2018:29346770}" "" "c.G1096A" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.151800771G>A" "" "likely 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 G3BP1 ## Count = 10 "{{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}}" "0001025059" "00008245" "50" "863" "0" "863" "0" "c.863C>T" "r.(?)" "p.(Pro288Leu)" "" "0001060406" "00008245" "50" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(Ala26=)" "2" "0001060407" "00008245" "70" "95" "1" "95" "1" "c.95+1G>A" "r.spl" "p.?" "2i" "0001060408" "00008245" "70" "232" "0" "232" "0" "c.232C>T" "r.(?)" "p.(Arg78Cys)" "4" "0001060409" "00008245" "70" "351" "1" "351" "1" "c.351+1G>T" "r.spl" "p.?" "4i" "0001060410" "00008245" "70" "395" "0" "395" "0" "c.395G>T" "r.(?)" "p.(Arg132Ile)" "5" "0001060411" "00008245" "70" "539" "1" "539" "1" "c.539+1G>A" "r.spl" "p.?" "6i" "0001060412" "00008245" "70" "623" "0" "623" "0" "c.623C>G" "r.(?)" "p.(Ser208Cys)" "7" "0001060413" "00008245" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "10" "0001060414" "00008245" "70" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Val366Met)" "11" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000472006" "0001060406" "0000472007" "0001060407" "0000472008" "0001060408" "0000472009" "0001060409" "0000472010" "0001060410" "0000472011" "0001060411" "0000472012" "0001060412" "0000472013" "0001060413" "0000472014" "0001060414"