### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FRZB) # 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}}" "FRZB" "frizzled-related protein" "2" "qter" "unknown" "NG_017197.1" "UD_132085248794" "" "https://www.LOVD.nl/FRZB" "" "1" "3959" "2487" "605083" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/FRZB_codingDNA.html" "1" "" "" "-1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-02-24 14:46:40" "00006" "2020-06-24 11:38:06" ## 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}}" "00008162" "FRZB" "frizzled-related protein" "001" "NM_001463.3" "" "NP_001454.2" "" "" "" "-218" "2552" "978" "183731498" "183698002" "" "0000-00-00 00:00:00" "" "" ## 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" "01479" "OS1" "sosteoarthritis, susceptibility 1 (OS-1)" "Mu" "165720" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05099" "ARVD/C" "dysplasia, arrhythmogenic right ventricular (ARVD), arrhythmogenic right ventricular cardiomyopathy (ARVC)" "" "" "" "" "" "00006" "2015-10-31 14:39:33" "00006" "2018-12-23 15:01:47" "05158" "ARVC" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "00006" "2016-04-19 22:00:09" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FRZB" "01479" ## 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}}" "00100439" "" "" "" "1" "" "01915" "" "" "M" "no" "Italy" ">35y" "0" "no" "Sotalol" "European" "Fam1.III.2" "00292503" "" "" "" "161" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304761" "" "" "" "1" "" "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}}" "00100439" "05099" "00100439" "05158" "00292503" "00198" "00304761" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01479, 05099, 05158 ## Count = 0 ## 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}}" "0000100844" "00100439" "1" "01915" "01915" "2017-02-24 11:57:50" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000293671" "00292503" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305890" "00304761" "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 = 3 "{{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}}" "0000163235" "11" "50" "2" "183703336" "183703336" "subst" "0.0818829" "01915" "FRZB_000001" "g.183703336G>A" "" "manuscript in preparation" "" "g.816C>T" "variant possibly has a disease causing effect together with a variant in PKP2 (digenic inheritance)" "Germline" "no" "rs288326" "0" "" "" "g.182838608G>A" "" "pathogenic" "" "0000650360" "1" "50" "2" "183703336" "183703336" "subst" "0.0818829" "03575" "FRZB_000001" "g.183703336G>A" "161/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 161 heterozygous; {DB:CLININrs288326}" "Germline" "" "rs288326" "0" "" "" "g.182838608G>A" "" "VUS" "" "0000669578" "3" "50" "2" "183703336" "183703336" "subst" "0.0818829" "03575" "FRZB_000001" "g.183703336G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 1 homozygous; {DB:CLININrs288326}" "Germline" "" "rs288326" "0" "" "" "g.182838608G>A" "" "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 FRZB ## Count = 3 "{{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}}" "0000163235" "00008162" "50" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Trp)" "4" "0000650360" "00008162" "50" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Trp)" "" "0000669578" "00008162" "50" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000100844" "0000163235" "0000293671" "0000650360" "0000305890" "0000669578"