### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EIF4ENIF1) # 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}}" "EIF4ENIF1" "eukaryotic translation initiation factor 4E nuclear import factor 1" "22" "q11.2" "unknown" "NC_000022.10" "UD_132457014353" "" "https://www.LOVD.nl/EIF4ENIF1" "" "1" "16687" "56478" "607445" "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" "2023-10-31 15:06:35" "00000" "2025-05-05 21:14:00" ## 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}}" "00007007" "EIF4ENIF1" "transcript variant 1" "002" "NM_019843.3" "" "NP_062817.2" "" "" "" "-222" "3479" "2958" "31885874" "31835345" "" "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}}" "03625" "RPRGL" "pregnancy loss, recurrent, susceptibility to (RPRGL)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2018-07-11 09:01:09" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00440108" "" "" "" "2" "" "00764" "" "family, affected brother/sister" "M" "" "" "" "0" "" "" "" "FamPat1" "00440109" "" "" "00440108" "1" "" "00764" "" "sister" "F" "yes" "" "" "0" "" "" "Indian" "FamPat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00440108" "03625" "00440109" "03625" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03625 ## Count = 2 "{{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}}" "0000330007" "03625" "00440109" "00764" "Familial" "" "The patient had 8 recurrent miscarriages and no live birth" "" "" "" "" "" "" "" "" "" "0000330183" "03625" "00440108" "00764" "Familial, autosomal recessive" "" "Brother of #00440109, has not tried to conceive yet" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000441592" "00440108" "1" "00764" "00764" "2023-10-27 21:26:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000441593" "00440109" "1" "00764" "00764" "2023-10-27 21:53:16" "" "" "SEQ-NG-I" "DNA" "" "" ## 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 = 7 "{{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}}" "0000276045" "0" "30" "22" "31851267" "31851267" "subst" "0" "01943" "EIF4ENIF1_000001" "g.31851267G>A" "" "" "" "EIF4ENIF1(NM_001164501.1):c.1134C>T (p.N378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31455281G>A" "" "likely benign" "" "0000339073" "0" "50" "22" "31837994" "31837994" "subst" "0" "02327" "EIF4ENIF1_000002" "g.31837994G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31442008G>A" "" "VUS" "" "0000939357" "3" "50" "22" "31859698" "31859698" "subst" "1.62772E-5" "00764" "EIF4ENIF1_000003" "g.31859698C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31463712C>T" "" "VUS" "ACMG" "0000939359" "3" "50" "22" "31859698" "31859698" "subst" "1.62772E-5" "00764" "EIF4ENIF1_000003" "g.31859698C>T" "" "" "" "" "both parents are heterozygous" "Germline" "yes" "" "0" "" "" "g.31463712C>T" "" "VUS" "ACMG" "0001043823" "0" "30" "22" "31845490" "31845490" "subst" "0.000415391" "01804" "EIF4ENIF1_000004" "g.31845490G>A" "" "" "" "EIF4ENIF1(NM_019843.4):c.1612C>T (p.(Pro538Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043824" "0" "30" "22" "31850322" "31850322" "subst" "0.00010155" "01804" "EIF4ENIF1_000005" "g.31850322T>C" "" "" "" "EIF4ENIF1(NM_019843.4):c.1320A>G (p.(Ala440=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043825" "0" "30" "22" "31859102" "31859102" "subst" "8.53915E-5" "01804" "EIF4ENIF1_000006" "g.31859102A>C" "" "" "" "EIF4ENIF1(NM_019843.4):c.603T>G (p.(Ser201Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 EIF4ENIF1 ## Count = 7 "{{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}}" "0000276045" "00007007" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Asn378=)" "" "0000339073" "00007007" "50" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Gln773Ter)" "" "0000939357" "00007007" "50" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185Gln)" "" "0000939359" "00007007" "50" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185Gln)" "" "0001043823" "00007007" "30" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Pro538Ser)" "" "0001043824" "00007007" "30" "1320" "0" "1320" "0" "c.1320A>G" "r.(?)" "p.(=)" "" "0001043825" "00007007" "30" "603" "0" "603" "0" "c.603T>G" "r.(?)" "p.(Ser201Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000441592" "0000939357" "0000441593" "0000939359"