### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANGPT1) # 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}}" "ANGPT1" "angiopoietin 1" "8" "q23.1" "unknown" "NG_029405.1" "UD_132085316507" "" "http://www.LOVD.nl/ANGPT1" "" "1" "484" "284" "601667" "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" "2025-03-13 09:31:28" "00006" "2024-09-30 14:02:56" ## 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}}" "00002469" "ANGPT1" "transcript variant 1" "002" "NM_001146.3" "" "NP_001137.2" "" "" "" "-468" "3870" "1497" "108510254" "108261710" "" "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}}" "02963" "HAE3" "angioedema, hereditary, type 3" "AD" "610618" "" "" "" "00006" "2014-09-25 23:29:40" "03256" "2025-04-09 18:11:52" "06944" "HAE" "angioedema, hereditary" "" "" "" "" "" "00006" "2022-07-07 09:18:20" "" "" "07158" "HAE5" "angioedema, hereditary, type 5" "AD" "619361" "" "" "" "00006" "2025-03-13 09:30:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ANGPT1" "06944" "ANGPT1" "07158" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00383166" "" "" "" "4" "" "03256" "{DOI:Bafunno 2018:10.1016/j.jaci.2017.05.020}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00385449" "" "" "" "5" "" "03256" "{PMID:Veronez 2021:33276216}, {DOI:Veronez 2021:10.1016/j.jaip.2020.11.039}" "pedigree with heterozygous carriers, incomplete penetrance: 5/8 carriers have been found clinically affected" "" "" "Brazil" "" "0" "" "" "" "patient" "00385450" "" "" "" "1" "" "03256" "{PMID:Veronez 2021:33276216}, {DOI:Veronez 2021:10.1016/j.jaip.2020.11.039}" "A single affected individual has been found as carrying a c.1151G>A in the PLG gene" "F" "" "Brazil" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00383166" "02963" "00385449" "02963" "00385450" "02963" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02963, 06944, 07158 ## Count = 3 "{{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}}" "0000276954" "02963" "00383166" "03256" "Familial" "" "Proband presenting with a nlC1-INH-HAE phenotype, i.e. recurrent angioedema resistant to H1-antihistamines and corticosteroids for acute attacks and prophylaxis." "" "" "" "" "" "" "" "" "" "0000279244" "02963" "00385449" "03256" "Familial" "" "Female proband is presenting with recurrent angioedema of the face, lips, limbs, genitalia, uper airways, and with abdomen pain" "" "" "" "" "" "" "" "" "" "0000279245" "02963" "00385450" "03256" "Familial" "" "Proband presenting with a HAE-U phenotype" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000384390" "00383166" "1" "03256" "03256" "2021-09-24 10:34:48" "" "" "SEQ-NG" "DNA" "" "" "0000386678" "00385449" "1" "03256" "03256" "2021-10-12 11:58:18" "" "" "SEQ" "DNA" "blood" "" "0000386679" "00385450" "1" "03256" "03256" "2021-10-12 12:21:19" "" "" "SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000384390" "ANGPT1" "0000386678" "ANGPT1" "0000386679" "ANGPT1" ## 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}}" "0000257696" "0" "10" "8" "108509631" "108509631" "subst" "0.00605987" "02330" "ANGPT1_000003" "g.108509631G>T" "" "" "" "ANGPT1(NM_001146.4):c.156C>A (p.G52=), ANGPT1(NM_001146.5):c.156C>A (p.G52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107497403G>T" "" "benign" "" "0000257697" "0" "10" "8" "108509559" "108509559" "subst" "0.00516189" "02330" "ANGPT1_000002" "g.108509559C>T" "" "" "" "ANGPT1(NM_001146.4):c.228G>A (p.P76=), ANGPT1(NM_001146.5):c.228G>A (p.P76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107497331C>T" "" "benign" "" "0000257699" "0" "10" "8" "108315614" "108315614" "del" "0" "02330" "ANGPT1_000004" "g.108315614del" "" "" "" "ANGPT1(NM_001146.5):c.809-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107303386del" "" "benign" "" "0000257700" "0" "10" "8" "108315614" "108315614" "dup" "0" "02330" "ANGPT1_000005" "g.108315614dup" "" "" "" "ANGPT1(NM_001146.5):c.809-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107303386dup" "" "benign" "" "0000678269" "0" "30" "8" "108276601" "108276601" "dup" "0" "02326" "ANGPT1_000006" "g.108276601dup" "" "" "" "ANGPT1(NM_001146.5):c.1206-15dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803402" "0" "10" "8" "108509559" "108509559" "subst" "0.00516189" "02326" "ANGPT1_000002" "g.108509559C>T" "" "" "" "ANGPT1(NM_001146.4):c.228G>A (p.P76=), ANGPT1(NM_001146.5):c.228G>A (p.P76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000811010" "0" "90" "8" "108359268" "108359268" "subst" "1.21933E-5" "03256" "ANGPT1_000007" "g.108359268C>A" "0.000008" "{DOI:Bafunno 2018: 10.1016/j.jaci.2017.05.020} {DOI:d\'Apolito 2019:10.1111/cea.13349}" "" "" "The heterozygous state has been mimicked in HUVEC cells. The p.Ala119Ser variant significantly reduced the capability to bind its natural receptor (80.7% of normal), less than the homozygous condition (59.1%). After stimulation of VEGF or bradykinin, the addition to equimolar amounts of wtANGPT1 and ANGPT1 p.Ala119Ser clearly reduced the expression of VE‐cadherin on the endothelial cell surface (31% and 24%, respectively). Cell surface expression of β‐catenin was reduced and severe gap formation between adjacent HUVECs developed.\r\nAscribed by ClinVar and OMIM to angioedema, hereditary 5, HAE5." "Germline" "yes" "rs764987358" "0" "" "" "g.107347040C>A" "{CV-SCV:001162304.3}" "pathogenic (dominant)" "ACMG" "0000814354" "0" "70" "8" "108297005" "108297005" "subst" "0.000195279" "03256" "ANGPT1_000008" "g.108297005C>G" "0.000263 (ALFA allele frequency)" "{PMID:Veronez 2021:33276216}, {DOI:Veronez 2021:10.1016/j.jaip.2020.11.039}" "" "" "Brazilan pedigree with heterozygous carriers of a c.1110G>C variant\r\nIncomplete penetrance: 5/8 carriers have been found clinically affected\r\nGln370 residue does not interact with nearby aminoacids but a point mutation to a His could cause repulsion due to proximity of Arg391" "Germline" "yes" "rs200226727" "0" "" "" "g.107284777C>G" "VCV000979220.1" "VUS" "ACMG" "0000814355" "0" "70" "8" "108296964" "108296964" "subst" "0.00124992" "03256" "ANGPT1_000009" "g.108296964C>T" "" "{PMID:Veronez 2021:33276216}, {DOI:Veronez 2021:10.1016/j.jaip.2020.11.039}" "" "" "An Arg to Gln transition at position 384 may interfere in nthe stability of beta-sheets in the subdomain B, because 2 H-bonding between Arg384 and Met378.\r\nConflicting interpretations of pathogenicity​" "Germline" "?" "rs146465357" "0" "" "" "g.107284736C>T" "{CV:VCV000778400.7}" "likely benign (dominant)" "" "0000851772" "0" "30" "8" "108509559" "108509559" "subst" "0.00516189" "01943" "ANGPT1_000002" "g.108509559C>T" "" "" "" "ANGPT1(NM_001146.4):c.228G>A (p.P76=), ANGPT1(NM_001146.5):c.228G>A (p.P76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851773" "0" "30" "8" "108509631" "108509631" "subst" "0.00605987" "01943" "ANGPT1_000003" "g.108509631G>T" "" "" "" "ANGPT1(NM_001146.4):c.156C>A (p.G52=), ANGPT1(NM_001146.5):c.156C>A (p.G52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851774" "0" "30" "8" "108509779" "108509779" "subst" "0" "02326" "ANGPT1_000013" "g.108509779A>G" "" "" "" "ANGPT1(NM_001146.5):c.8T>C (p.V3A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861014" "0" "30" "8" "108296964" "108296964" "subst" "0.00124992" "01943" "ANGPT1_000009" "g.108296964C>T" "" "" "" "ANGPT1(NM_001146.4):c.1151G>A (p.R384Q), ANGPT1(NM_001146.5):c.1151G>A (p.R384Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861015" "0" "50" "8" "108296969" "108296969" "subst" "0.000382534" "01943" "ANGPT1_000010" "g.108296969C>A" "" "" "" "ANGPT1(NM_001146.4):c.1146G>T (p.G382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861016" "0" "30" "8" "108509559" "108509559" "subst" "2.84514E-5" "02325" "ANGPT1_000011" "g.108509559C>A" "" "" "" "ANGPT1(NM_001146.5):c.228G>T (p.P76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861017" "0" "50" "8" "108509663" "108509663" "subst" "0" "01943" "ANGPT1_000012" "g.108509663C>T" "" "" "" "ANGPT1(NM_001146.4):c.124G>A (p.A42T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888120" "0" "30" "8" "108296964" "108296964" "subst" "0.00124992" "02326" "ANGPT1_000009" "g.108296964C>T" "" "" "" "ANGPT1(NM_001146.4):c.1151G>A (p.R384Q), ANGPT1(NM_001146.5):c.1151G>A (p.R384Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912869" "0" "30" "8" "108334185" "108334185" "subst" "0.000162562" "02326" "ANGPT1_000014" "g.108334185C>T" "" "" "" "ANGPT1(NM_001146.5):c.747G>A (p.K249=)" "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 ANGPT1 ## 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}}" "0000257696" "00002469" "10" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Gly52=)" "" "0000257697" "00002469" "10" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Pro76=)" "" "0000257699" "00002469" "10" "809" "-5" "809" "-5" "c.809-5del" "r.spl?" "p.?" "" "0000257700" "00002469" "10" "809" "-5" "809" "-5" "c.809-5dup" "r.spl?" "p.?" "" "0000678269" "00002469" "30" "1206" "-15" "1206" "-15" "c.1206-15dup" "r.(=)" "p.(=)" "" "0000803402" "00002469" "10" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Pro76=)" "" "0000811010" "00002469" "90" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "0000814354" "00002469" "70" "1110" "0" "1110" "0" "c.1110G>C" "r.(?)" "p.(Gln370His)" "2" "0000814355" "00002469" "70" "1151" "0" "1151" "0" "c.1151G>A" "r.(?)" "p.(Arg384Gln)" "2" "0000851772" "00002469" "30" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Pro76=)" "" "0000851773" "00002469" "30" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Gly52=)" "" "0000851774" "00002469" "30" "8" "0" "8" "0" "c.8T>C" "r.(?)" "p.(Val3Ala)" "" "0000861014" "00002469" "30" "1151" "0" "1151" "0" "c.1151G>A" "r.(?)" "p.(Arg384Gln)" "" "0000861015" "00002469" "50" "1146" "0" "1146" "0" "c.1146G>T" "r.(?)" "p.(Gly382=)" "" "0000861016" "00002469" "30" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Pro76=)" "" "0000861017" "00002469" "50" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Ala42Thr)" "" "0000888120" "00002469" "30" "1151" "0" "1151" "0" "c.1151G>A" "r.(?)" "p.(Arg384Gln)" "" "0000912869" "00002469" "30" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Lys249=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000384390" "0000811010" "0000386678" "0000814354" "0000386679" "0000814355"