### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = EIF5A)
# 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}}"
"EIF5A" "eukaryotic translation initiation factor 5A" "17" "p13-p12" "unknown" "NC_000017.10" "UD_134753417133" "" "https://www.LOVD.nl/EIF5A" "" "1" "3300" "1984" "600187" "1" "1" "1" "1" "Linked to craniofacial-neurodevelopmental syndrome by Faundes ASHG2020.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/EIF5A_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-10-30 19:33:02" "00000" "2026-02-13 12:25:04"
## 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}}"
"00025570" "EIF5A" "transcript variant A" "001" "NM_001143760.1" "" "NP_001137232.1" "" "" "" "-48" "1208" "555" "7210318" "7215782" "00006" "2020-10-30 18:41:00" "" ""
## 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}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"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 = 0
## 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}}"
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00050400" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00315957" "" "" "" "1" "" "00006" "Faundes ASHG2020" "" "" "" "" "" "0" "" "" "" ""
"00315958" "" "" "" "1" "" "00006" "Faundes ASHG2020" "" "" "" "" "" "0" "" "" "" ""
"00315959" "" "" "" "1" "" "00006" "Faundes ASHG2020" "" "" "" "" "" "0" "" "" "" ""
"00315960" "" "" "" "1" "" "00006" "Faundes ASHG2020" "" "" "" "" "" "0" "" "" "" ""
"00315961" "" "" "" "1" "" "00006" "Faundes ASHG2020" "" "" "" "" "" "0" "" "" "" ""
"00315962" "" "" "" "1" "" "00006" "Faundes ASHG2020" "" "" "" "" "" "0" "" "" "" ""
"00315963" "" "" "" "1" "" "00006" "Faundes ASHG2020" "" "" "" "" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 9
"{{individualid}}" "{{diseaseid}}"
"00000209" "01157"
"00050400" "00198"
"00315957" "05611"
"00315958" "05611"
"00315959" "05611"
"00315960" "05611"
"00315961" "05611"
"00315962" "05611"
"00315963" "05611"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 05611
## Count = 9
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000037012" "00198" "00050400" "00006" "Isolated (sporadic)" "" "progressive microcephaly, deeply set eye, palpebral edema, short nose, narrow mouth, depressed nasal bridge, full cheeks, small feet, short palm, abnormality of the tragus" "" "" "" "" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000239702" "05611" "00315957" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
"0000239703" "05611" "00315958" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
"0000239704" "05611" "00315959" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
"0000239705" "05611" "00315960" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
"0000239706" "05611" "00315961" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
"0000239707" "05611" "00315962" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
"0000239708" "05611" "00315963" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
## 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}}"
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000050345" "00050400" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000317139" "00315957" "1" "00006" "00006" "2020-10-30 19:55:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317140" "00315958" "1" "00006" "00006" "2020-10-30 19:55:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317141" "00315959" "1" "00006" "00006" "2020-10-30 19:55:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317142" "00315960" "1" "00006" "00006" "2020-10-30 19:55:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317143" "00315961" "1" "00006" "00006" "2020-10-30 19:55:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317144" "00315962" "1" "00006" "00006" "2020-10-30 19:55:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317145" "00315963" "1" "00006" "00006" "2020-10-30 19:55:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{geneid}}"
"0000317139" "EIF5A"
"0000317140" "EIF5A"
"0000317141" "EIF5A"
"0000317142" "EIF5A"
"0000317143" "EIF5A"
"0000317144" "EIF5A"
"0000317145" "EIF5A"
## 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 = 14
"{{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}}"
"0000013633" "3" "50" "17" "7213892" "7213892" "subst" "0" "00037" "EIF5A_000001" "g.7213892A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7310573A>G" "" "VUS" ""
"0000079325" "0" "90" "17" "6995688" "7232433" "del" "0" "00006" "ACADVL_000011" "g.6995688_7232433del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.7092369_7329114del" "" "pathogenic" ""
"0000254427" "0" "30" "17" "7216609" "7216609" "subst" "4.06095E-6" "01943" "GPS2_000001" "g.7216609A>G" "" "" "" "GPS2(NM_004489.5):c.726T>C (p.G242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7313290A>G" "" "likely benign" ""
"0000288748" "0" "30" "17" "7217690" "7217690" "subst" "9.74572E-5" "01943" "GPS2_000002" "g.7217690T>A" "" "" "" "GPS2(NM_004489.5):c.237A>T (p.L79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7314371T>A" "" "likely benign" ""
"0000616796" "0" "50" "17" "7217654" "7217656" "del" "0" "02327" "EIF5A_000002" "g.7217654_7217656del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7314335_7314337del" "" "VUS" ""
"0000699332" "0" "90" "17" "7213097" "7213097" "subst" "0" "00006" "EIF5A_000005" "g.7213097C>A" "" "Faundes ASHG2020" "" "T48N" "" "De novo" "" "" "0" "" "" "g.7309778C>A" "" "pathogenic (dominant)" ""
"0000699333" "0" "90" "17" "7214714" "7214714" "" "0" "00006" "EIF5A_000003" "g.7214714G>M" "" "Faundes ASHG2020" "" "G106R" "" "De novo" "" "" "0" "" "" "g.7311395G>M" "" "pathogenic (dominant)" ""
"0000699334" "0" "90" "17" "7214722" "7214722" "dup" "0" "00006" "EIF5A_000006" "g.7214722dup" "" "Faundes ASHG2020" "" "R109Tfs*8" "" "De novo" "" "" "0" "" "" "g.7311403dup" "" "pathogenic (dominant)" ""
"0000699335" "0" "90" "17" "7214723" "7214723" "subst" "0" "00006" "EIF5A_000007" "g.7214723C>G" "" "Faundes ASHG2020" "" "R109G" "" "De novo" "" "" "0" "" "" "g.7311404C>G" "" "pathogenic (dominant)" ""
"0000699336" "0" "90" "17" "7214723" "7214723" "subst" "0" "00006" "EIF5A_000008" "g.7214723C>T" "" "Faundes ASHG2020" "" "R109*" "" "De novo" "" "" "0" "" "" "g.7311404C>T" "" "pathogenic (dominant)" ""
"0000699337" "0" "90" "17" "7214741" "7214741" "subst" "0" "00006" "EIF5A_000004" "g.7214741C>T" "" "Faundes ASHG2020" "" "P115S" "" "De novo" "" "" "0" "" "" "g.7311422C>G" "" "pathogenic (dominant)" ""
"0000699338" "0" "90" "17" "7214762" "7214762" "subst" "0" "00006" "EIF5A_000009" "g.7214762G>A" "" "Faundes ASHG2020" "" "E122K" "" "De novo" "" "" "0" "" "" "g.7311443G>A" "" "pathogenic (dominant)" ""
"0000894238" "0" "70" "17" "7214413" "7214413" "subst" "0" "02329" "GPS2_000006" "g.7214413T>A" "" "" "" "EIF5A(NM_001970.5):c.242T>A (p.V81D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001068265" "0" "50" "17" "7210435" "7210435" "subst" "0" "03779" "EIF5A_000010" "g.7210435G>A" "" "" "" "" "" "Unknown" "" "rs192093777" "0" "" "" "" "" "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 EIF5A
## Count = 14
"{{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}}"
"0000013633" "00025570" "50" "256" "-445" "256" "-445" "c.256-445A>G" "r.(=)" "p.(=)" ""
"0000079325" "00025570" "90" "-214678" "0" "17859" "0" "c.-214678_*17304del" "r.0?" "p.0?" ""
"0000254427" "00025570" "30" "2035" "0" "2035" "0" "c.*1480A>G" "r.(=)" "p.(=)" ""
"0000288748" "00025570" "30" "3116" "0" "3116" "0" "c.*2561T>A" "r.(=)" "p.(=)" ""
"0000616796" "00025570" "50" "3080" "0" "3082" "0" "c.*2525_*2527del" "r.(=)" "p.(=)" ""
"0000699332" "00025570" "90" "233" "0" "233" "0" "c.233C>A" "r.(?)" "p.(Thr78Asn)" ""
"0000699333" "00025570" "90" "406" "0" "406" "0" "c.406G>M" "r.(?)" "p.(Gly136Arg)" ""
"0000699334" "00025570" "90" "414" "0" "414" "0" "c.414dup" "r.(?)" "p.(Arg139Thrfs*8)" ""
"0000699335" "00025570" "90" "415" "0" "415" "0" "c.415C>G" "r.(?)" "p.(Arg139Gly)" ""
"0000699336" "00025570" "90" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139*)" ""
"0000699337" "00025570" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Pro145Ser)" ""
"0000699338" "00025570" "90" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Glu152Lys)" ""
"0000894238" "00025570" "70" "332" "0" "332" "0" "c.332T>A" "r.(?)" "p.(Val111Asp)" ""
"0001068265" "00025570" "50" "69" "1" "69" "1" "c.69+1G>A" "r.(?)" "p.(?)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 9
"{{screeningid}}" "{{variantid}}"
"0000000210" "0000013633"
"0000050345" "0000079325"
"0000317139" "0000699332"
"0000317140" "0000699333"
"0000317141" "0000699334"
"0000317142" "0000699335"
"0000317143" "0000699336"
"0000317144" "0000699337"
"0000317145" "0000699338"