### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOX3) # 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}}" "NOX3" "NADPH oxidase 3" "6" "q25.3" "unknown" "NG_011995.1" "UD_132118873169" "" "https://www.LOVD.nl/NOX3" "Globin Gene Server databases \r\nHbVar " "1" "7890" "50508" "607105" "1" "1" "1" "1" "This gene is part of the Globin Gene Server databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "This gene is part of the Globin Gene Server databases." "-1" "" "-1" "00001" "2009-02-18 00:00:00" "00006" "2019-11-01 10:41:46" "00000" "2020-06-22 11:10:58" ## 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}}" "00014709" "NOX3" "NADPH oxidase 3" "001" "NM_015718.2" "" "NP_056533.1" "" "" "" "-103" "1941" "1707" "155777037" "155716502" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00267105" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267106" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267107" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267108" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00267105" "00198" "00267106" "00198" "00267107" "00198" "00267108" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000268234" "00267105" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268235" "00267106" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268236" "00267107" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268237" "00267108" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000268234" "NOX3" "0000268235" "NOX3" "0000268236" "NOX3" "0000268237" "NOX3" ## 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 = 4 "{{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}}" "0000600911" "0" "50" "6" "155742646" "155742646" "subst" "0" "03464" "NOX3_000003" "g.155742646A>G" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs9371889" "0" "" "" "g.155421512A>G" "" "VUS" "" "0000600912" "0" "50" "6" "155739924" "155739924" "subst" "0" "03464" "NOX3_000002" "g.155739924C>T" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs231945" "0" "" "" "g.155418790C>T" "" "VUS" "" "0000600913" "0" "50" "6" "155739768" "155739768" "subst" "0" "03464" "NOX3_000001" "g.155739768T>G" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs231944" "0" "" "" "g.155418634T>G" "" "VUS" "" "0000600914" "0" "50" "6" "155762185" "155762185" "subst" "0" "03464" "NOX3_000004" "g.155762185G>T" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs6557420" "0" "" "" "g.155441051G>T" "" "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 NOX3 ## Count = 4 "{{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}}" "0000600911" "00014709" "50" "1308" "1182" "1308" "1182" "c.1308+1182T>C" "r.(=)" "p.(=)" "" "0000600912" "00014709" "50" "1308" "3904" "1308" "3904" "c.1308+3904G>A" "r.(=)" "p.(=)" "" "0000600913" "00014709" "50" "1308" "4060" "1308" "4060" "c.1308+4060A>C" "r.(=)" "p.(=)" "" "0000600914" "00014709" "50" "487" "-914" "487" "-914" "c.487-914C>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000268234" "0000600911" "0000268235" "0000600912" "0000268236" "0000600913" "0000268237" "0000600914"