### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EIF2B1) # 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}}" "EIF2B1" "eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa" "12" "q24.3" "unknown" "NG_015862.1" "UD_132085334314" "" "https://www.LOVD.nl/EIF2B1" "" "1" "3257" "1967" "606686" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/EIF2B1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2019-02-17 17:38:10" "00000" "2023-04-16 21:50:28" ## 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}}" "00006968" "EIF2B1" "eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa" "001" "NM_001414.3" "" "NP_001405.1" "" "" "" "-219" "1651" "918" "124118323" "124105570" "" "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}}" "02470" "VWM" "leukoencephalopathy with vanishing white matter (VWM)" "AR" "603896" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EIF2B1" "02470" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00207950" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00225526" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225527" "" "" "" "1" "" "00233" "{PMID:11835386 abstract:11835386}" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00225526" "02470" "00225527" "02470" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02470 ## 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}}" "0000155722" "00198" "00207950" "01164" "Unknown" "" "HP:0001263 (Global developmental delay), reduced amount of white matter, profound developmental delay" "" "" "" "" "" "" "" "" "profound global developmental delay" "0000170640" "02470" "00225526" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "0000170641" "02470" "00225527" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000208995" "00207950" "1" "01164" "01164" "2018-12-04 16:43:50" "" "" "SEQ-NG" "DNA" "" "" "0000226605" "00225526" "1" "00233" "00000" "2012-08-09 15:15:06" "" "" "SEQ" "DNA" "" "" "0000226606" "00225527" "1" "00233" "00000" "2012-08-09 15:15:06" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000226605" "EIF2B1" "0000226606" "EIF2B1" ## 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}}" "0000276032" "0" "30" "12" "124111644" "124111644" "subst" "0.00163644" "01943" "EIF2B1_000003" "g.124111644C>T" "" "" "" "EIF2B1(NM_001414.3):c.429G>A (p.A143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123627097C>T" "" "likely benign" "" "0000276033" "0" "50" "12" "124107304" "124107304" "subst" "8.12262E-6" "01943" "EIF2B1_000005" "g.124107304C>A" "" "" "" "EIF2B1(NM_001414.3):c.632G>T (p.G211V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123622757C>A" "" "VUS" "" "0000323192" "0" "50" "12" "124107311" "124107311" "subst" "4.062E-6" "01804" "EIF2B1_000006" "g.124107311G>A" "" "" "" "EIF2B1(NM_001414.3):c.628-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123622764G>A" "" "VUS" "" "0000439060" "0" "50" "12" "124106383" "124106383" "subst" "2.84269E-5" "01164" "EIF2B1_000004" "g.124106383A>C" "" "" "" "" "no second variant detected in the EIF2B1 gene" "Germline" "" "rs752958176" "0" "" "" "g.123621836A>C" "" "VUS" "ACMG" "0000458946" "0" "90" "12" "124110976" "124110976" "subst" "0" "00233" "EIF2B1_000001" "g.124110976C>A" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:068450}" "Germline" "" "" "0" "" "" "g.123626429C>A" "" "pathogenic" "" "0000458947" "0" "90" "12" "124109339" "124109339" "subst" "8.12209E-6" "00233" "EIF2B1_000002" "g.124109339T>A" "" "{PMID:van der Knaap et al (2002):11835386}" "" "" "submitted through SIB; {EXP:015404}" "Germline" "" "" "0" "" "" "g.123624792T>A" "" "pathogenic" "" "0000546931" "0" "50" "12" "124111006" "124111006" "subst" "0" "01943" "EIF2B1_000007" "g.124111006C>A" "" "" "" "EIF2B1(NM_001414.3):c.517G>T (p.V173F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123626459C>A" "" "VUS" "" "0000546932" "0" "30" "12" "124115020" "124115020" "subst" "0.00104432" "01943" "EIF2B1_000008" "g.124115020A>G" "" "" "" "EIF2B1(NM_001414.3):c.176T>C (p.V59A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123630473A>G" "" "likely benign" "" "0000613921" "0" "30" "12" "124109352" "124109352" "subst" "9.74746E-5" "01943" "DDX55_000001" "g.124109352G>A" "" "" "" "EIF2B1(NM_001414.3):c.609C>T (p.N203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123624805G>A" "" "likely benign" "" "0000925577" "0" "10" "12" "124111723" "124111723" "subst" "0.107854" "02329" "EIF2B1_000009" "g.124111723T>C" "" "" "" "EIF2B1(NM_001414.4):c.370-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## 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 EIF2B1 ## 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}}" "0000276032" "00006968" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Ala143=)" "" "0000276033" "00006968" "50" "632" "0" "632" "0" "c.632G>T" "r.(?)" "p.(Gly211Val)" "" "0000323192" "00006968" "50" "628" "-3" "628" "-3" "c.628-3C>T" "r.spl?" "p.?" "" "0000439060" "00006968" "50" "838" "0" "838" "0" "c.838T>G" "r.(?)" "p.(Leu280Val)" "" "0000458946" "00006968" "90" "547" "0" "547" "0" "c.547G>T" "r.(?)" "p.(Val183Phe)" "?" "0000458947" "00006968" "90" "622" "0" "622" "0" "c.622A>T" "r.(?)" "p.(Asn208Tyr)" "?" "0000546931" "00006968" "50" "517" "0" "517" "0" "c.517G>T" "r.(?)" "p.(Val173Phe)" "" "0000546932" "00006968" "30" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Val59Ala)" "" "0000613921" "00006968" "30" "609" "0" "609" "0" "c.609C>T" "r.(?)" "p.(Asn203=)" "" "0000925577" "00006968" "10" "370" "-20" "370" "-20" "c.370-20A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000208995" "0000439060" "0000226605" "0000458946" "0000226606" "0000458947"