### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COX5A) # 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}}" "COX5A" "cytochrome c oxidase subunit Va" "15" "q25" "unknown" "NC_000015.9" "UD_136086341774" "" "https://www.LOVD.nl/COX5A" "" "1" "2267" "9377" "603773" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/COX5A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-07-23 10:43:13" "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}}" "00005558" "COX5A" "cytochrome c oxidase subunit Va" "001" "NM_004255.3" "" "NP_004246.2" "" "" "" "-140" "630" "453" "75230495" "75212616" "" "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" "01740" "MC4DN" "mitochondrial complex IV deficiency (MCDN4)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-07-23 10:38:44" "03913" "PHN" "hypertension, pulmonary, neonatal, susceptibility to (PHN)" "" "615371" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-24 11:37:33" "05956" "MC4DN20" "mitochondrial complex IV deficiency, nuclear, type 20 (MC4DN20)" "AR" "619064" "" "" "" "00006" "2021-07-23 10:42:56" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COX5A" "01740" "COX5A" "05956" ## 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}}" "00100353" "" "" "" "2" "" "01906" "{PMID:Baertling 2017:28247525}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Oman" "01y03m" "0" "" "" "Arab" "" "00377546" "" "" "" "1" "" "04127" "" "" "F" "yes" "Italy" "" "0" "" "" "" "O1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00100353" "03913" "00377546" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01740, 03913, 05956 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000078562" "03913" "00100353" "01906" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive, lactic acidemia, early-onset pulmonary arterial hypertension, isolated complex IV deficiency" "" "" "early-onset pulmonary arterial hypertension" "" "" "" "" "" "MC4DN20" "hypertension" "" "0000272697" "00198" "00377546" "04127" "Familial, autosomal recessive" "07y" "short stature, failure to thrive, ketotic hypoglicemia, dysmorphisms" "00y" "09y" "failure to thrive, hyposomy" "" "" "" "" "" "mithocondrial disease" "genetic syndrome" "" ## 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}}" "0000100757" "00100353" "1" "01906" "01906" "2017-02-14 15:58:18" "" "" "SEQ-NG" "DNA" "" "" "0000378749" "00377546" "1" "04127" "04127" "2021-07-23 09:51:01" "" "" "SEQ-NG" "DNA" "BLOOD" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000100757" "COX5A" "0000378749" "COX5A" ## 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}}" "0000163124" "3" "90" "15" "75219127" "75219127" "subst" "0" "01906" "COX5A_000001" "g.75219127G>A" "" "{PMID:Baertling 2017:28247525}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74926786G>A" "" "pathogenic (recessive)" "" "0000791640" "3" "70" "15" "75219180" "75219180" "subst" "0" "04127" "COX5A_000003" "g.75219180A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.74926839A>C" "" "likely pathogenic (recessive)" "ACMG" "0001040569" "0" "30" "15" "75230282" "75230282" "subst" "0.00287592" "01804" "COX5A_000004" "g.75230282G>C" "" "" "" "COX5A(NM_004255.4):c.74C>G (p.(Ser25Cys))" "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 COX5A ## 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}}" "0000163124" "00005558" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Cys)" "3" "0000791640" "00005558" "70" "266" "0" "266" "0" "c.266T>G" "r.(?)" "p.(Ile89Ser)" "3" "0001040569" "00005558" "30" "74" "0" "74" "0" "c.74C>G" "r.(?)" "p.(Ser25Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000100757" "0000163124" "0000378749" "0000791640"