### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF365) # 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}}" "ZNF365" "zinc finger protein 365" "10" "q21.2" "unknown" "NG_021209.1" "UD_132118406766" "" "https://www.LOVD.nl/ZNF365" "" "1" "18194" "22891" "607818" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-20 20:03:37" "00000" "2024-08-28 13:16:32" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00023405" "ZNF365" "transcript variant A" "003" "NM_014951.2" "" "NP_055766.2" "" "" "" "-315" "3893" "1224" "64133916" "64162217" "" "0000-00-00 00:00:00" "" "" "00025449" "ZNF365" "transcript variant C" "001" "NM_199451.2" "" "NP_955523.1" "" "" "" "-315" "3099" "1389" "64133916" "64431771" "00006" "2019-07-20 20:04:45" "" "" "00025450" "ZNF365" "transcript variant D" "004" "NM_199452.3" "" "NP_955524.3" "" "" "" "-334" "2361" "651" "64280207" "64431771" "00006" "2019-07-20 20:05:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "02568" "UAN" "nephrolithiasis, uric acid, susceptibility to" "" "605990" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZNF365" "02568" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00248274" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00248277" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00248274" "00318" "00248277" "00318" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00318, 02568 ## Count = 2 "{{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}}" "{{Phenotype/Diagnosis/Criteria}}" "0000187283" "00318" "00248274" "01474" "Unknown" "" "31y ductal breast cancer, subtype basal" "31y" "" "" "" "" "" "" "" "breast cancer" "" "0000187286" "00318" "00248277" "01474" "Unknown" "" "39y ductal breast cancer, subtype luminal A" "39y" "" "" "" "" "" "" "" "breast cancer" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000249379" "00248274" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000249382" "00248277" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" ## 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 = 7 "{{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}}" "0000321570" "0" "50" "10" "64136072" "64136072" "subst" "0.00235522" "01804" "ZNF365_000001" "g.64136072G>C" "" "" "" "ZNF365(NM_014951.2):c.120G>C (p.(Leu40Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62376313G>C" "" "VUS" "" "0000540176" "0" "30" "10" "64136218" "64136218" "subst" "0" "01943" "ZNF365_000003" "g.64136218G>A" "" "" "" "ZNF365(NM_014951.3):c.266G>A (p.G89D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62376459G>A" "" "likely benign" "" "0000578145" "0" "70" "10" "64382946" "64382946" "subst" "2.84278E-5" "01474" "ZNF365_000002" "g.64382946G>A" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs142406094" "0" "" "" "g.62623186G>A" "" "VUS" "" "0000578150" "0" "70" "10" "64382946" "64382946" "subst" "2.84278E-5" "01474" "ZNF365_000002" "g.64382946G>A" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs142406094" "0" "" "" "g.62623186G>A" "" "VUS" "" "0000852514" "0" "30" "10" "64382959" "64382959" "subst" "0.000385774" "02326" "ZNF365_000004" "g.64382959A>G" "" "" "" "ZNF365(NM_199451.3):c.1078A>G (p.S360G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861934" "0" "10" "10" "64416150" "64416150" "subst" "0.00107895" "02326" "ZNF365_000005" "g.64416150T>C" "" "" "" "ZNF365(NM_199451.3):c.1130-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000998418" "0" "30" "10" "64219518" "64219518" "subst" "8.74002E-5" "01804" "ZNF365_000006" "g.64219518G>A" "" "" "" "ZNF365(NM_199451.2):c.943G>A (p.(Glu315Lys))" "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 ZNF365 ## Count = 21 "{{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}}" "0000321570" "00025449" "50" "120" "0" "120" "0" "c.120G>C" "r.(?)" "p.(Leu40Phe)" "" "0000321570" "00025450" "50" "-144469" "0" "-144469" "0" "c.-144469G>C" "r.(?)" "p.(=)" "" "0000321570" "00023405" "50" "120" "0" "120" "0" "c.120G>C" "r.(?)" "p.(Leu40Phe)" "" "0000540176" "00025449" "30" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Gly89Asp)" "" "0000540176" "00025450" "30" "-144323" "0" "-144323" "0" "c.-144323G>A" "r.(?)" "p.(=)" "" "0000540176" "00023405" "30" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Gly89Asp)" "" "0000578145" "00025449" "70" "1065" "0" "1065" "0" "c.1065G>A" "r.(?)" "p.(Trp355*)" "" "0000578145" "00025450" "70" "-184" "-20556" "-184" "-20556" "c.-184-20556G>A" "r.(=)" "p.(=)" "" "0000578145" "00023405" "70" "1065" "0" "1065" "0" "c.1065G>A" "r.(?)" "p.(Trp355*)" "" "0000578150" "00025449" "70" "1065" "0" "1065" "0" "c.1065G>A" "r.(?)" "p.(Trp355*)" "" "0000578150" "00025450" "70" "-184" "-20556" "-184" "-20556" "c.-184-20556G>A" "r.(=)" "p.(=)" "" "0000578150" "00023405" "70" "1065" "0" "1065" "0" "c.1065G>A" "r.(?)" "p.(Trp355*)" "" "0000852514" "00025449" "30" "1078" "0" "1078" "0" "c.1078A>G" "r.(?)" "p.(Ser360Gly)" "" "0000852514" "00025450" "30" "-184" "-20543" "-184" "-20543" "c.-184-20543A>G" "r.(=)" "p.(=)" "" "0000852514" "00023405" "30" "224635" "0" "224635" "0" "c.*223411A>G" "r.(=)" "p.(=)" "" "0000861934" "00025449" "10" "1130" "-6" "1130" "-6" "c.1130-6T>C" "r.(=)" "p.(=)" "" "0000861934" "00025450" "10" "392" "-6" "392" "-6" "c.392-6T>C" "r.(=)" "p.(=)" "" "0000861934" "00023405" "10" "257826" "0" "257826" "0" "c.*256602T>C" "r.(=)" "p.(=)" "" "0000998418" "00025449" "30" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Glu315Lys)" "" "0000998418" "00025450" "30" "-61023" "0" "-61023" "0" "c.-61023G>A" "r.(?)" "p.(=)" "" "0000998418" "00023405" "30" "61194" "0" "61194" "0" "c.*59970G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000249379" "0000578145" "0000249382" "0000578150"