### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NFKBIA) # 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}}" "NFKBIA" "nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha" "14" "q13" "unknown" "NC_000014.8" "UD_132118310402" "" "https://www.LOVD.nl/NFKBIA" "" "1" "7797" "4792" "164008" "1" "1" "1" "1" "Alias IKBA, MAD-3. IkappaBalpha.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/NFKBIA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-02-13 08:46:51" "00006" "2026-02-13 09:10:07" ## 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}}" "00014523" "NFKBIA" "nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha" "001" "NM_020529.2" "" "NP_065390.1" "" "" "" "-110" "1457" "954" "35873960" "35870716" "" "0000-00-00 00:00:00" "" "" ## 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}}" "03092" "EDAID2" "dysplasia, ectodermal, and immunodeficiency, type 2" "AD" "612132" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2026-02-13 08:57:52" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05524" "EDAID" "dysplasia, ectodermal, and immunodeficiency (EDAID)" "" "" "" "" "" "00006" "2018-11-24 01:38:16" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NFKBIA" "03092" "NFKBIA" "05524" ## 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}}" "00207572" "" "" "" "1" "" "00006" "{PMID:Lopez-Granados 2008:18412279}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "white" "patient" "00433101" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Chile" "5y" "0" "" "" "" "Pat77,1" "00472432" "" "" "" "1" "" "00006" "{PMID:Ohnishi 2012:22078572}" "2-generation family, 1 affected, unaffected parents" "M" "" "Japan" "" "0" "" "" "" "patient" "00472433" "" "" "" "1" "" "00006" "{PMID:McDonald 2007:17931563}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00207572" "05524" "00433101" "05292" "00472432" "05524" "00472433" "05524" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03092, 05292, 05524 ## Count = 4 "{{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}}" "0000155347" "05524" "00207572" "00006" "Isolated (sporadic)" "" "see paper; ..., failure to thrive, recurrent pyogenic bacterial infections, oral candidiasis, PCP pneumonia, severe\r\nimmunodeficiency" "" "" "" "" "" "" "" "EDAID-2" "EDAID" "0000323627" "05292" "00433101" "00006" "Unknown" "5y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "0000357242" "05524" "00472432" "00006" "Unknown" "00y05m" "see paper; ...5m-dysmorphism; poor body temperature regulation, anhidrosis; 1m-recurrent infections" "" "" "" "" "" "" "" "EDAID2" "ectodermal dysplasiaand immunodeficiency" "0000357243" "05524" "00472433" "00006" "Unknown" "10y" "see paper; ..., 2m-recurrent pneumonia; bronchiectasis; 10y-no bacteremia, no mycobacterial infections; slightly thin hair, recessed hairline, pegged teeth, coarse skin, heat intolerant, unable to sweat" "" "" "" "" "" "" "" "EDAID2" "ectodermal dysplasiaand immunodeficiency" ## 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}}" "0000208611" "00207572" "1" "00006" "00006" "2018-11-24 01:31:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000434532" "00433101" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000474101" "00472432" "1" "00006" "00006" "2026-02-13 08:54:21" "" "" "SEQ;Western" "DNA" "" "" "0000474102" "00472433" "1" "00006" "00006" "2026-02-13 09:04:48" "" "" "RT-PCR;SEQ;Western" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000208611" "NFKBIA" "0000474101" "NFKBIA" "0000474102" "NFKBIA" ## 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 = 25 "{{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}}" "0000296462" "0" "10" "14" "35871217" "35871217" "subst" "0.392059" "02325" "NFKBIA_000001" "g.35871217G>A" "" "" "" "NFKBIA(NM_020529.3):c.*2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35402011G>A" "" "benign" "" "0000296463" "0" "10" "14" "35872926" "35872926" "subst" "0.166635" "02325" "NFKBIA_000005" "g.35872926G>A" "" "" "" "NFKBIA(NM_020529.3):c.306C>T (p.A102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35403720G>A" "" "benign" "" "0000296464" "0" "30" "14" "35872068" "35872068" "subst" "0.00623899" "02325" "NFKBIA_000004" "g.35872068G>A" "" "" "" "NFKBIA(NM_020529.2):c.548-3C>T, NFKBIA(NM_020529.3):c.548-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35402862G>A" "" "likely benign" "" "0000296465" "0" "10" "14" "35873770" "35873770" "subst" "0.284414" "02325" "NFKBIA_000006" "g.35873770G>A" "" "" "" "NFKBIA(NM_020529.3):c.81C>T (p.D27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35404564G>A" "" "benign" "" "0000300030" "0" "30" "14" "35872068" "35872068" "subst" "0.00623899" "02326" "NFKBIA_000004" "g.35872068G>A" "" "" "" "NFKBIA(NM_020529.2):c.548-3C>T, NFKBIA(NM_020529.3):c.548-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35402862G>A" "" "likely benign" "" "0000304113" "0" "30" "14" "35872059" "35872059" "subst" "0.000236204" "01943" "NFKBIA_000003" "g.35872059G>A" "" "" "" "NFKBIA(NM_020529.2):c.554C>T (p.T185M), NFKBIA(NM_020529.3):c.554C>T (p.T185M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35402853G>A" "" "likely benign" "" "0000304114" "0" "50" "14" "35871824" "35871824" "subst" "4.06085E-6" "01943" "NFKBIA_000002" "g.35871824G>C" "" "" "" "NFKBIA(NM_020529.2):c.682C>G (p.Q228E), NFKBIA(NM_020529.3):c.682C>G (p.Q228E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35402618G>C" "" "VUS" "" "0000438522" "0" "90" "14" "35873811" "35873811" "subst" "0" "00006" "NFKBIA_000007" "g.35873811C>A" "" "{PMID:Lopez-Granados 2008:18412279}" "" "(Glu14X)" "effect on protein confirmed using Western blot" "De novo" "" "" "0" "" "" "g.35404605C>A" "" "pathogenic (dominant)" "" "0000552527" "0" "50" "14" "35871659" "35871659" "subst" "4.06187E-6" "01943" "NFKBIA_000008" "g.35871659T>A" "" "" "" "NFKBIA(NM_020529.2):c.847A>T (p.S283C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35402453T>A" "" "VUS" "" "0000552528" "0" "50" "14" "35871659" "35871659" "subst" "4.06187E-6" "02326" "NFKBIA_000008" "g.35871659T>A" "" "" "" "NFKBIA(NM_020529.2):c.847A>T (p.S283C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35402453T>A" "" "VUS" "" "0000691653" "0" "30" "14" "35871715" "35871715" "subst" "0.000300549" "01943" "NFKBIA_000009" "g.35871715C>T" "" "" "" "NFKBIA(NM_020529.2):c.791G>A (p.R264Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724759" "0" "30" "14" "35871275" "35871275" "subst" "1.63646E-5" "01943" "NFKBIA_000010" "g.35871275A>C" "" "" "" "NFKBIA(NM_020529.2):c.907-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724760" "0" "10" "14" "35872032" "35872032" "subst" "0.000634311" "02326" "NFKBIA_000011" "g.35872032C>G" "" "" "" "NFKBIA(NM_020529.2):c.581G>C (p.G194A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724761" "0" "50" "14" "35872059" "35872059" "subst" "0.000236204" "02325" "NFKBIA_000003" "g.35872059G>A" "" "" "" "NFKBIA(NM_020529.2):c.554C>T (p.T185M), NFKBIA(NM_020529.3):c.554C>T (p.T185M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806397" "0" "30" "14" "35871618" "35871618" "subst" "8.12552E-5" "02326" "NFKBIA_000012" "g.35871618C>T" "" "" "" "NFKBIA(NM_020529.2):c.888G>A (p.T296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891781" "0" "30" "14" "35872059" "35872059" "subst" "0.000236204" "02326" "NFKBIA_000003" "g.35872059G>A" "" "" "" "NFKBIA(NM_020529.2):c.554C>T (p.T185M), NFKBIA(NM_020529.3):c.554C>T (p.T185M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891782" "0" "10" "14" "35872989" "35872989" "subst" "0.00217331" "02326" "NFKBIA_000013" "g.35872989G>A" "" "" "" "NFKBIA(NM_020529.2):c.243C>T (p.A81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000920286" "11" "50" "14" "35871659" "35871659" "subst" "4.06187E-6" "00006" "NFKBIA_000008" "g.35871659T>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.35402453T>A" "" "VUS" "ACMG" "0000925871" "0" "50" "14" "35871824" "35871824" "subst" "4.06085E-6" "02325" "NFKBIA_000002" "g.35871824G>C" "" "" "" "NFKBIA(NM_020529.2):c.682C>G (p.Q228E), NFKBIA(NM_020529.3):c.682C>G (p.Q228E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930301" "0" "30" "14" "35871225" "35871225" "subst" "1.22044E-5" "02326" "NFKBIA_000014" "g.35871225C>T" "" "" "" "NFKBIA(NM_020529.2):c.948G>A (p.T316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000996" "0" "30" "14" "35872961" "35872961" "subst" "4.06587E-6" "01804" "NFKBIA_000015" "g.35872961T>G" "" "" "" "NFKBIA(NM_020529.2):c.271A>C (p.(Met91Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066058" "0" "50" "14" "35873753" "35873753" "subst" "0" "02325" "NFKBIA_000016" "g.35873753C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066059" "0" "50" "14" "35873777" "35873777" "del" "0" "02325" "NFKBIA_000017" "g.35873777del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068255" "0" "90" "14" "35873826" "35873826" "subst" "0" "00006" "NFKBIA_000018" "g.35873826G>A" "" "{PMID:Ohnishi 2012:22078572}" "" "(Q9X)" "effect on protein analysed using Western blot" "Germline/De novo (untested)" "" "" "0" "" "" "g.35404620G>A" "" "pathogenic (dominant)" "" "0001068256" "0" "90" "14" "35873819" "35873819" "subst" "0" "00006" "NFKBIA_000019" "g.35873819C>T" "" "{PMID:McDonald 2007:17931563}" "" "G32A" "effect on protein analysed using Western blot" "Germline/De novo (untested)" "" "" "0" "" "" "g.35404613C>T" "" "pathogenic (dominant)" "" ## 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 NFKBIA ## Count = 25 "{{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}}" "0000296462" "00014523" "10" "956" "0" "956" "0" "c.*2C>T" "r.(=)" "p.(=)" "" "0000296463" "00014523" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Ala102=)" "" "0000296464" "00014523" "30" "548" "-3" "548" "-3" "c.548-3C>T" "r.spl?" "p.?" "" "0000296465" "00014523" "10" "81" "0" "81" "0" "c.81C>T" "r.(?)" "p.(Asp27=)" "" "0000300030" "00014523" "30" "548" "-3" "548" "-3" "c.548-3C>T" "r.spl?" "p.?" "" "0000304113" "00014523" "30" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Thr185Met)" "" "0000304114" "00014523" "50" "682" "0" "682" "0" "c.682C>G" "r.(?)" "p.(Gln228Glu)" "" "0000438522" "00014523" "90" "40" "0" "40" "0" "c.40G>T" "r.40G>T" "p.Phe2_Met37del" "2" "0000552527" "00014523" "50" "847" "0" "847" "0" "c.847A>T" "r.(?)" "p.(Ser283Cys)" "" "0000552528" "00014523" "50" "847" "0" "847" "0" "c.847A>T" "r.(?)" "p.(Ser283Cys)" "" "0000691653" "00014523" "30" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264Gln)" "" "0000724759" "00014523" "30" "907" "-9" "907" "-9" "c.907-9T>G" "r.(=)" "p.(=)" "" "0000724760" "00014523" "10" "581" "0" "581" "0" "c.581G>C" "r.(?)" "p.(Gly194Ala)" "" "0000724761" "00014523" "50" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Thr185Met)" "" "0000806397" "00014523" "30" "888" "0" "888" "0" "c.888G>A" "r.(?)" "p.(Thr296=)" "" "0000891781" "00014523" "30" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Thr185Met)" "" "0000891782" "00014523" "10" "243" "0" "243" "0" "c.243C>T" "r.(?)" "p.(Ala81=)" "" "0000920286" "00014523" "50" "847" "0" "847" "0" "c.847A>T" "r.(?)" "p.(Ser283Cys)" "5" "0000925871" "00014523" "50" "682" "0" "682" "0" "c.682C>G" "r.(?)" "p.(Gln228Glu)" "" "0000930301" "00014523" "30" "948" "0" "948" "0" "c.948G>A" "r.(?)" "p.(=)" "" "0001000996" "00014523" "30" "271" "0" "271" "0" "c.271A>C" "r.(?)" "p.(Met91Leu)" "" "0001066058" "00014523" "50" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Gly33Asp)" "" "0001066059" "00014523" "50" "74" "0" "74" "0" "c.74del" "r.(?)" "p.(Leu25Hisfs*13)" "" "0001068255" "00014523" "90" "25" "0" "25" "0" "c.25C>T" "r.(25C>T)" "p.[Phe2_Met13del,Phe2_Met37del]" "" "0001068256" "00014523" "90" "32" "0" "32" "0" "c.32G>A" "r.32G>A" "p.Phe2_Met37del" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000208611" "0000438522" "0000434532" "0000920286" "0000474101" "0001068255" "0000474102" "0001068256"