### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CTLA4) # 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}}" "CTLA4" "cytotoxic T-lymphocyte-associated protein 4" "2" "q33" "unknown" "NC_000002.11" "UD_132118708193" "" "https://www.LOVD.nl/CTLA4" "" "1" "2505" "1493" "123890" "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" "2024-07-11 10:04:21" "00006" "2024-07-11 10:05:17" ## 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}}" "00005847" "CTLA4" "transcript variant 1" "001" "NM_005214.4" "" "NP_005205.2" "" "" "" "-155" "1820" "672" "204732511" "204738683" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "01357" "HT" "Hashimoto thyroiditis" "AD" "140300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01417" "SLE" "lupus erythematosus, systemic, susceptibility to (SLE)" "AD" "152700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02358" "IDDM12" "diabetes mellitus, insulin-dependent, type 12 (IDDM-12)" "" "601388" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02875" "CELIAC3" "celiac disease, susceptibility to, type 3 (CELIAC-3)" "" "609755" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04434" "ALPS5" "autoimmune lymphoproliferative syndrome, type V (ALPS-5)" "AD" "616100" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "CTLA4" "01357" "CTLA4" "01417" "CTLA4" "02358" "CTLA4" "02875" "CTLA4" "04434" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00180467" "" "" "" "37" "" "02555" "{PMID:Hagrass 2014:24991555}" "Egyptian cohort" "F;M" "" "Egypt" "" "0" "{DB:Uveo2983?snp=rs231775&t=1535705216}" "" "Egyptian" "" "00180477" "" "" "" "77" "" "02555" "{PMID:Houman 2009:19254250}" "Tunisian cohort" "F;M" "" "Tunisia" "" "0" "{DB:Uveo3437?snp=rs231775&t=1535371771}" "" "Tunisian" "" "00433047" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "United States" "6y" "0" "" "" "Europe" "Pat14,1" "00433048" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Norway" "" "0" "" "" "" "Pat15,1" "00433073" "" "" "" "2" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "family, 2 affected" "F" "" "Norway" "" "0" "" "" "" "Pat46,1" "00452107" "" "" "" "1" "" "04725" "" "IgG4-related disease" "F" "" "" "" "" "" "" "" "IRD10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00180467" "05467" "00180477" "05467" "00433047" "05292" "00433048" "05292" "00433073" "05292" "00452107" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01357, 01417, 02358, 02875, 04434, 05292, 05467 ## Count = 6 "{{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}}" "0000142862" "05467" "00180467" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000142872" "05467" "00180477" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000323573" "05292" "00433047" "00006" "Unknown" "6y" "autoimmune disease" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323574" "05292" "00433048" "00006" "Familial, autosomal dominant" "20y" "autoimmune disease" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323599" "05292" "00433073" "00006" "Unknown" "24y" "common variable immunodeficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000340710" "00198" "00452107" "04725" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "IgG4-related disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181404" "00180467" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181414" "00180477" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000434478" "00433047" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434479" "00433048" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434504" "00433073" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000453709" "00452107" "1" "04725" "04725" "2024-07-10 11:56:30" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000181404" "CTLA4" "0000181414" "CTLA4" ## 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 = 19 "{{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}}" "0000248920" "0" "10" "2" "204732714" "204732714" "subst" "0.415001" "02325" "CTLA4_000001" "g.204732714A>G" "" "" "" "CTLA4(NM_005214.5):c.49A>G (p.T17A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.203867991A>G" "" "benign" "" "0000274540" "0" "10" "2" "204732740" "204732740" "subst" "0.00187278" "01943" "CTLA4_000002" "g.204732740G>C" "" "" "" "CTLA4(NM_001037631.2):c.75G>C (p.(Leu25=)), CTLA4(NM_005214.5):c.75G>C (p.L25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.203868017G>C" "" "benign" "" "0000405100" "0" "50" "2" "204732714" "204732714" "subst" "0.415001" "02555" "CTLA4_000001" "g.204732714A>G" "37/120 cases" "{PMID:Hagrass 2014:24991555}" "" "" "{DB:Uveo2983?snp=rs231775&t=1535705216}" "Germline" "" "rs231775" "0" "" "" "g.203867991A>G" "" "VUS" "" "0000405110" "0" "50" "2" "204732714" "204732714" "subst" "0.415001" "02555" "CTLA4_000001" "g.204732714A>G" "77/270 cases" "{PMID:Houman 2009:19254250}" "" "" "{DB:Uveo3437?snp=rs231775&t=1535371771}" "Germline" "" "rs231775" "0" "" "" "g.203867991A>G" "" "VUS" "" "0000513967" "0" "30" "2" "204735295" "204735295" "subst" "4.10752E-6" "02326" "CTLA4_000004" "g.204735295C>T" "" "" "" "CTLA4(NM_005214.5):c.110-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.203870572C>T" "" "likely benign" "" "0000513968" "0" "90" "2" "204735408" "204735408" "subst" "0" "02327" "CTLA4_000005" "g.204735408G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.203870685G>A" "" "pathogenic" "" "0000513969" "0" "70" "2" "204736171" "204736172" "dup" "0" "02326" "CTLA4_000006" "g.204736171_204736172dup" "" "" "" "CTLA4(NM_005214.5):c.528_529dupTT (p.Y177Ffs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.203871448_203871449dup" "" "likely pathogenic" "" "0000513970" "0" "70" "2" "204736215" "204736215" "subst" "0" "02326" "CTLA4_000007" "g.204736215G>T" "" "" "" "CTLA4(NM_005214.5):c.567+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.203871492G>T" "" "likely pathogenic" "" "0000676447" "0" "70" "2" "204735608" "204735608" "subst" "0" "01804" "CTLA4_000008" "g.204735608C>A" "" "" "" "CTLA4(NM_005214.4):c.409C>A (p.(Pro137Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688602" "0" "10" "2" "204732740" "204732740" "subst" "0.00187278" "01804" "CTLA4_000002" "g.204732740G>C" "" "" "" "CTLA4(NM_001037631.2):c.75G>C (p.(Leu25=)), CTLA4(NM_005214.5):c.75G>C (p.L25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718387" "0" "50" "2" "204735430" "204735431" "del" "0" "01943" "CTLA4_000009" "g.204735430_204735431del" "" "" "" "CTLA4(NM_005214.5):c.231_232delTG (p.D78Qfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718388" "0" "50" "2" "204735433" "204735496" "del" "0" "01943" "CTLA4_000010" "g.204735433_204735496del" "" "" "" "CTLA4(NM_005214.5):c.234_297del (p.D78Efs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800279" "0" "70" "2" "204735661" "204735661" "subst" "0" "02326" "CTLA4_000011" "g.204735661G>A" "" "" "" "CTLA4(NM_005214.5):c.457+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911513" "0" "10" "2" "204732740" "204732740" "subst" "0.00187278" "02326" "CTLA4_000002" "g.204732740G>C" "" "" "" "CTLA4(NM_001037631.2):c.75G>C (p.(Leu25=)), CTLA4(NM_005214.5):c.75G>C (p.L25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911514" "0" "50" "2" "204735525" "204735525" "subst" "0.000236399" "02325" "CTLA4_000012" "g.204735525G>A" "" "" "" "CTLA4(NM_005214.5):c.326G>A (p.G109E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920238" "11" "50" "2" "204735609" "204735609" "subst" "0" "00006" "CTLA4_000014" "g.204735609C>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.203870886C>A" "" "VUS" "ACMG" "0000920239" "21" "90" "2" "204732759" "204732766" "delins" "0" "00006" "CTLA4_000013" "g.204732759_204732766delinsTTCTCTTCATCA" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.203868036_203868043delinsTTCTCTTCATCA" "" "pathogenic" "ACMG" "0000920259" "11" "50" "2" "204735609" "204735609" "subst" "0" "00006" "CTLA4_000015" "g.204735609C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "De novo" "" "" "0" "" "" "g.203870886C>T" "" "VUS" "ACMG" "0000988466" "0" "50" "2" "204735525" "204735525" "subst" "0.000236399" "04725" "CTLA4_000012" "g.204735525G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.203870802G>A" "" "VUS" "ACMG" ## 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 CTLA4 ## Count = 19 "{{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}}" "0000248920" "00005847" "10" "49" "0" "49" "0" "c.49A>G" "r.(?)" "p.(Thr17Ala)" "" "0000274540" "00005847" "10" "75" "0" "75" "0" "c.75G>C" "r.(?)" "p.(Leu25=)" "" "0000405100" "00005847" "00" "49" "0" "49" "0" "c.49A>G" "r.(?)" "p.(Thr17Ala)" "" "0000405110" "00005847" "00" "49" "0" "49" "0" "c.49A>G" "r.(?)" "p.(Thr17Ala)" "" "0000513967" "00005847" "30" "110" "-14" "110" "-14" "c.110-14C>T" "r.(=)" "p.(=)" "" "0000513968" "00005847" "90" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70Gln)" "" "0000513969" "00005847" "70" "528" "0" "529" "0" "c.528_529dup" "r.(?)" "p.(Tyr177PhefsTer11)" "" "0000513970" "00005847" "70" "567" "5" "567" "5" "c.567+5G>T" "r.spl?" "p.?" "" "0000676447" "00005847" "70" "409" "0" "409" "0" "c.409C>A" "r.(?)" "p.(Pro137Thr)" "" "0000688602" "00005847" "10" "75" "0" "75" "0" "c.75G>C" "r.(?)" "p.(Leu25=)" "" "0000718387" "00005847" "50" "231" "0" "232" "0" "c.231_232del" "r.(?)" "p.(Asp78Glnfs*5)" "" "0000718388" "00005847" "50" "234" "0" "297" "0" "c.234_297del" "r.(?)" "p.(Asp78Glufs*14)" "" "0000800279" "00005847" "70" "457" "5" "457" "5" "c.457+5G>A" "r.spl?" "p.?" "" "0000911513" "00005847" "10" "75" "0" "75" "0" "c.75G>C" "r.(?)" "p.(Leu25=)" "" "0000911514" "00005847" "50" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Gly109Glu)" "" "0000920238" "00005847" "50" "410" "0" "410" "0" "c.410C>A" "r.(?)" "p.(Pro137Gln)" "2" "0000920239" "00005847" "90" "94" "0" "101" "0" "c.94_101delinsTTCTCTTCATCA" "r.(?)" "p.(Pro32PhefsTer29)" "1" "0000920259" "00005847" "50" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Pro137Leu)" "2" "0000988466" "00005847" "50" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Gly109Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000181404" "0000405100" "0000181414" "0000405110" "0000434478" "0000920238" "0000434479" "0000920239" "0000434504" "0000920259" "0000453709" "0000988466"