### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IRF4) # 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}}" "IRF4" "interferon regulatory factor 4" "6" "p25-p23" "unknown" "NG_027728.1" "UD_132118947555" "" "https://www.LOVD.nl/IRF4" "" "1" "6119" "3662" "601900" "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/IRF4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-27 12:53:51" "00000" "2024-08-28 13:16:32" ## 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}}" "00025542" "IRF4" "transcript variant 1" "001" "NM_002460.3" "" "NP_002451.2" "" "" "" "-126" "5201" "1356" "391739" "411443" "00006" "2020-07-27 12:55:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01950" "-" "myeloma, multiple" "SMu" "254500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04522" "SHEP8" "pigmentation, skin/hair/eye, variation in, type 8 (SHEP-8)" "" "611724" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05663" "SHEP" "pigmentation, skin/eye/hair (SHEP)" "PG" "" "" "" "" "00006" "2019-10-25 16:17:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IRF4" "01950" "IRF4" "04522" ## 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}}" "00266414" "" "" "" "22" "" "01873" "Laboratorio de Diversidad Genética IMBICE, La Plata, Argentina" "analysis 87 individuals" "F;M" "" "Argentina" "" "0" "" "" "admixed" "" "00266415" "" "" "" "65" "" "01873" "Laboratorio de Diversidad Genética IMBICE, La Plata, Argentina" "analysis 87 individuals" "F;M" "" "Argentina" "" "0" "" "" "admixed" "" "00294099" "" "" "" "31" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305097" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00266414" "05663" "00266415" "05663" "00294099" "00198" "00305097" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01950, 04522, 05663 ## Count = 0 ## 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}}" "0000267541" "00266414" "1" "01873" "01873" "2019-07-11 22:34:21" "" "" "SEQ" "DNA" "" "" "0000267542" "00266415" "1" "01873" "01873" "2019-07-11 22:34:21" "" "" "SEQ" "DNA" "" "" "0000295267" "00294099" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306226" "00305097" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## 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 = 18 "{{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}}" "0000528813" "0" "30" "6" "401464" "401464" "subst" "0.000960709" "01943" "IRF4_000001" "g.401464C>T" "" "" "" "IRF4(NM_002460.3):c.786C>T (p.L262=), IRF4(NM_002460.4):c.786C>T (p.L262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.401464C>T" "" "likely benign" "" "0000528814" "0" "30" "6" "401641" "401641" "subst" "0.00421828" "01943" "IRF4_000002" "g.401641C>T" "" "" "" "IRF4(NM_002460.3):c.963C>T (p.P321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.401641C>T" "" "likely benign" "" "0000598773" "1" "10" "6" "396321" "396321" "subst" "0" "01873" "IRF4_000003" "g.396321C>T" "22/87 individuals" "" "" "" "" "Germline" "" "" "0" "" "" "g.396321C>T" "" "association" "" "0000598774" "3" "10" "6" "396321" "396321" "subst" "0" "01873" "IRF4_000003" "g.396321C>T" "65/87 individuals" "" "" "" "" "Germline" "" "" "0" "" "" "g.396321C>T" "" "association" "" "0000651956" "1" "90" "6" "396321" "396321" "subst" "0" "03575" "IRF4_000003" "g.396321C>T" "31/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "31 heterozygous; {DB:CLININrs12203592}" "Germline" "" "rs12203592" "0" "" "" "g.396321C>T" "" "pathogenic" "" "0000669914" "3" "90" "6" "396321" "396321" "subst" "0" "03575" "IRF4_000003" "g.396321C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs12203592}" "Germline" "" "rs12203592" "0" "" "" "g.396321C>T" "" "pathogenic" "" "0000720931" "0" "30" "6" "401571" "401571" "subst" "0.000150303" "01943" "IRF4_000004" "g.401571A>G" "" "" "" "IRF4(NM_002460.3):c.893A>G (p.N298S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802585" "0" "50" "6" "393175" "393175" "subst" "0.000187376" "02325" "IRF4_000005" "g.393175G>A" "" "" "" "IRF4(NM_002460.4):c.23G>A (p.R8Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802586" "0" "50" "6" "394867" "394867" "subst" "4.06369E-6" "01943" "IRF4_000006" "g.394867C>T" "" "" "" "IRF4(NM_002460.3):c.263C>T (p.P88L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802589" "0" "30" "6" "401700" "401700" "subst" "0.000347993" "02326" "IRF4_000007" "g.401700C>T" "" "" "" "IRF4(NM_002460.3):c.1022C>T (p.(Ala341Val)), IRF4(NM_002460.4):c.1022C>T (p.A341V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802590" "0" "30" "6" "405137" "405137" "subst" "1.22407E-5" "01943" "IRF4_000008" "g.405137C>T" "" "" "" "IRF4(NM_002460.3):c.1212+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851229" "0" "30" "6" "407451" "407451" "subst" "4.44294E-5" "01943" "IRF4_000009" "g.407451A>G" "" "" "" "IRF4(NM_002460.3):c.1213-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860345" "0" "30" "6" "407553" "407553" "subst" "9.78825E-5" "01943" "IRF4_000010" "g.407553A>G" "" "" "" "IRF4(NM_002460.3):c.1311A>G (p.P437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887237" "0" "30" "6" "397178" "397178" "subst" "4.06062E-6" "02326" "IRF4_000011" "g.397178C>T" "" "" "" "IRF4(NM_002460.4):c.563C>T (p.P188L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887245" "0" "30" "6" "401464" "401464" "subst" "0.000960709" "02326" "IRF4_000001" "g.401464C>T" "" "" "" "IRF4(NM_002460.3):c.786C>T (p.L262=), IRF4(NM_002460.4):c.786C>T (p.L262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929188" "0" "30" "6" "393166" "393166" "subst" "0" "02326" "IRF4_000012" "g.393166G>A" "" "" "" "IRF4(NM_002460.4):c.14G>A (p.G5D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929189" "0" "30" "6" "395864" "395864" "subst" "1.63336E-5" "02326" "IRF4_000013" "g.395864C>G" "" "" "" "IRF4(NM_002460.4):c.421C>G (p.L141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995750" "0" "30" "6" "401700" "401700" "subst" "0.000347993" "01804" "IRF4_000007" "g.401700C>T" "" "" "" "IRF4(NM_002460.3):c.1022C>T (p.(Ala341Val)), IRF4(NM_002460.4):c.1022C>T (p.A341V)" "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 IRF4 ## Count = 18 "{{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}}" "0000528813" "00025542" "30" "786" "0" "786" "0" "c.786C>T" "r.(?)" "p.(Leu262=)" "" "0000528814" "00025542" "30" "963" "0" "963" "0" "c.963C>T" "r.(?)" "p.(Pro321=)" "" "0000598773" "00025542" "10" "492" "386" "492" "386" "c.492+386C>T" "r.(?)" "p.(=)" "" "0000598774" "00025542" "10" "492" "386" "492" "386" "c.492+386C>T" "r.(?)" "p.(=)" "" "0000651956" "00025542" "90" "492" "386" "492" "386" "c.492+386C>T" "r.(=)" "p.(=)" "" "0000669914" "00025542" "90" "492" "386" "492" "386" "c.492+386C>T" "r.(=)" "p.(=)" "" "0000720931" "00025542" "30" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(Asn298Ser)" "" "0000802585" "00025542" "50" "23" "0" "23" "0" "c.23G>A" "r.(?)" "p.(Arg8Gln)" "" "0000802586" "00025542" "50" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Pro88Leu)" "" "0000802589" "00025542" "30" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ala341Val)" "" "0000802590" "00025542" "30" "1212" "7" "1212" "7" "c.1212+7C>T" "r.(=)" "p.(=)" "" "0000851229" "00025542" "30" "1213" "-4" "1213" "-4" "c.1213-4A>G" "r.spl?" "p.?" "" "0000860345" "00025542" "30" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Pro437=)" "" "0000887237" "00025542" "30" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Pro188Leu)" "" "0000887245" "00025542" "30" "786" "0" "786" "0" "c.786C>T" "r.(?)" "p.(Leu262=)" "" "0000929188" "00025542" "30" "14" "0" "14" "0" "c.14G>A" "r.(?)" "p.(Gly5Asp)" "" "0000929189" "00025542" "30" "421" "0" "421" "0" "c.421C>G" "r.(?)" "p.(Leu141Val)" "" "0000995750" "00025542" "30" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ala341Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000267541" "0000598773" "0000267542" "0000598774" "0000295267" "0000651956" "0000306226" "0000669914"