### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EDN1) # 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}}" "EDN1" "endothelin 1" "6" "p24.1" "unknown" "NG_016196.1" "UD_132118302852" "" "https://www.LOVD.nl/EDN1" "" "1" "3176" "1906" "131240" "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/EDN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-16 12:06:04" "00000" "2025-05-05 21:14:00" ## 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}}" "00025693" "EDN1" "transcript variant 1" "001" "NM_001955.4" "" "NP_001946.3" "" "" "" "-334" "1766" "639" "12290529" "12297427" "00006" "2022-02-16 12:03:49" "" "" ## 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}}" "03193" "QME" "Question mark ears, isolated" "AD" "612798" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04054" "ARCND3" "auriculocondylar syndrome, type 3 (ARCND-3)" "AR" "615706" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05901" "ARCND" "auriculocondylar syndrome (ARCND)" "" "" "" "" "" "00006" "2021-02-17 11:15:16" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "EDN1" "03193" "EDN1" "04054" "EDN1" "05901" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00402591" "" "" "" "1" "" "04251" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00402591" "05901" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03193, 04054, 05901 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000403833" "00402591" "1" "04251" "04251" "2022-02-07 23:05:48" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000403833" "EDN1" ## 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 = 6 "{{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}}" "0000677609" "0" "50" "6" "12292741" "12292741" "subst" "0" "01943" "EDN1_000001" "g.12292741G>A" "" "" "" "EDN1(NM_001955.4):c.232G>A (p.E78K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000839400" "0" "70" "6" "12290865" "12290865" "subst" "0" "04251" "EDN1_000002" "g.12290865G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000851052" "0" "50" "6" "12292676" "12292676" "subst" "0" "01943" "EDN1_000003" "g.12292676C>T" "" "" "" "EDN1(NM_001955.4):c.167C>T (p.S56L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995316" "0" "50" "6" "12296254" "12296254" "subst" "1.62427E-5" "01804" "EDN1_000004" "g.12296254A>G" "" "" "" "EDN1(NM_001955.4):c.593A>G (p.(Lys198Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035447" "0" "30" "6" "12292628" "12292628" "subst" "0.000305178" "01804" "EDN1_000005" "g.12292628C>T" "" "" "" "EDN1(NM_001955.5):c.119C>T (p.(Thr40Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035448" "0" "50" "6" "12294568" "12294568" "subst" "8.12308E-5" "01804" "EDN1_000006" "g.12294568G>A" "" "" "" "EDN1(NM_001955.5):c.464G>A (p.(Cys155Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 EDN1 ## Count = 6 "{{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}}" "0000677609" "00025693" "50" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Glu78Lys)" "" "0000839400" "00025693" "70" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "" "0000851052" "00025693" "50" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Ser56Leu)" "" "0000995316" "00025693" "50" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0001035447" "00025693" "30" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Thr40Ile)" "" "0001035448" "00025693" "50" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Cys155Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000403833" "0000839400"