### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EIF3A) # 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}}" "EIF3A" "eukaryotic translation initiation factor 3, subunit A" "10" "q26.11" "unknown" "NC_000010.10" "UD_132319386905" "" "https://www.LOVD.nl/EIF3A" "" "1" "3271" "8661" "602039" "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" "2025-10-29 10:13:52" "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}}" "00006981" "EIF3A" "eukaryotic translation initiation factor 3, subunit A" "001" "NM_003750.2" "" "NP_003741.1" "" "" "" "-146" "5159" "4149" "120840334" "120794541" "" "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}}" "EIF3A" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00467758" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat15" "00467759" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected carrier mother" "F" "" "" "" "0" "" "" "" "Pat16" "00467760" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents (mother 1 early pregnancy loss)" "F" "" "" "" "0" "" "" "" "Pat17" "00467761" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat18" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00467758" "05611" "00467759" "05611" "00467760" "05611" "00467761" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 4 "{{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}}" "0000352910" "05611" "00467758" "00006" "Isolated (sporadic)" "6y" "see paper; ..., tetralogy of Fallot; thin upper lip vermillion, retrognathia, epicanthus, anteverted nares, deeply set eyes; delayed speech and language now within normal limits; seizures; mother ventricular septal defect" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352911" "05611" "00467759" "00006" "Familial" "6y10m" "see paper; ..., tetralogy of Fallot with right-sided aortic arch; low-set posteriorly rotated ears, long philtrum, flat nasal bridge; met developmental milestones; 1:1 supervision at school for visual difficulties; no seizures; family history of autism, ADHD, heart problems; mother unaffected" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352912" "05611" "00467760" "00006" "Isolated (sporadic)" "1y1m" "see paper; ..., ventricular septal defect, atrial septal defect, patent foramen ovale; thin upper vermillion, quite flat midface, downturned mouth corners; mild articulation problems; no seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352913" "05611" "00467761" "00006" "Isolated (sporadic)" "6y" "see paper; ..., ventricular septal defect, right-sided aortic arch, vascular ring; acrocephaly, downslanting palpebral fissures, epicanthal folds, telecanthus, deeply set eyes, maxillary hypoplasia, malar hypoplasia, micrognathia, triangular facies, asymmetry, tented lips, high arched palate, small flat teeth; developmental delay; no seizures; father downslanting palpebral fissures" "" "" "" "" "" "" "" "neurodevelopmental disorders" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000469424" "00467758" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000469425" "00467759" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000469426" "00467760" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469427" "00467761" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "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 = 9 "{{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}}" "0000539242" "0" "30" "10" "120789882" "120789882" "subst" "0" "01943" "EIF3A_000003" "g.120789882C>G" "" "" "" "NANOS1(NM_199461.3):c.569C>G (p.A190G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119030370C>G" "" "likely benign" "" "0000998143" "0" "30" "10" "120789858" "120789858" "subst" "0" "01804" "EIF3A_000004" "g.120789858G>A" "" "" "" "NANOS1(NM_199461.2):c.545G>A (p.(Arg182His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037740" "0" "30" "10" "120801896" "120801896" "subst" "0.00209982" "01804" "EIF3A_000005" "g.120801896G>A" "" "" "" "EIF3A(NM_003750.4):c.3136C>T (p.(Arg1046Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037741" "0" "30" "10" "120802187" "120802187" "subst" "1.21845E-5" "01804" "EIF3A_000006" "g.120802187A>T" "" "" "" "EIF3A(NM_003750.4):c.2845T>A (p.(Ser949Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049718" "0" "90" "10" "120810811" "120813391" "del" "0" "00006" "EIF3A_000007" "g.120810811_120813391del" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "hg38 10q26.11 (chr10:119051299–119053879)x1" "2.58 kbp intragenic deletion" "De novo" "" "" "0" "" "" ":g.119051299_119053879del" "" "pathogenic (dominant)" "" "0001049719" "21" "90" "10" "120833034" "120833035" "del" "0" "00006" "EIF3A_000011" "g.120833034_120833035del" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "Germline" "" "" "0" "" "" "g.119073522_119073523del" "" "pathogenic (dominant)" "" "0001049720" "0" "90" "10" "120820755" "120820756" "del" "0" "00006" "EIF3A_000010" "g.120820755_120820756del" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.119061243_119061244del" "" "pathogenic (dominant)" "" "0001049721" "0" "90" "10" "120801944" "120801944" "subst" "0" "00006" "EIF3A_000009" "g.120801944G>A" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.119042432G>A" "" "pathogenic (dominant)" "" "0001053714" "0" "50" "10" "120789688" "120789688" "subst" "0" "01804" "EIF3A_000008" "g.120789688C>A" "" "" "" "NANOS1(NM_199461.4):c.375C>A (p.(Ser125Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 EIF3A ## Count = 9 "{{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}}" "0000539242" "00006981" "30" "9818" "0" "9818" "0" "c.*5669G>C" "r.(=)" "p.(=)" "" "0000998143" "00006981" "30" "9842" "0" "9842" "0" "c.*5693C>T" "r.(=)" "p.(=)" "" "0001037740" "00006981" "30" "3136" "0" "3136" "0" "c.3136C>T" "r.(?)" "p.(Arg1046Trp)" "" "0001037741" "00006981" "30" "2845" "0" "2845" "0" "c.2845T>A" "r.(?)" "p.(Ser949Thr)" "" "0001049718" "00006981" "90" "2197" "-2556" "2221" "0" "c.2197-2556_2221del" "r.spl" "p.?" "14i_15" "0001049719" "00006981" "90" "295" "0" "296" "0" "c.295_296del" "r.(?)" "p.(Glu99LysfsTer3)" "" "0001049720" "00006981" "90" "1209" "0" "1210" "0" "c.1209_1210del" "r.(?)" "p.(Cys404Ter)" "" "0001049721" "00006981" "90" "3088" "0" "3088" "0" "c.3088C>T" "r.(?)" "p.(Arg1030Ter)" "" "0001053714" "00006981" "50" "10012" "0" "10012" "0" "c.*5863G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000469424" "0001049718" "0000469425" "0001049719" "0000469426" "0001049720" "0000469427" "0001049721"