### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-CO3) # 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}}" "MT-CO3" "mitochondrially encoded cytochrome c oxidase III" "M" "" "no" "NC_012920.1" "NC_012920.1" "" "https://www.LOVD.nl/MT-CO3" "" "1" "7422" "4514" "516050" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00006" "2022-01-18 15:18:06" "" "" "00000" "2025-11-01 13:22:20" ## 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}}" "00025764" "MT-CO3" "transcript variant 1" "001" "NC_012920.1(COX3_v001)" "" "" "" "" "" "1" "784" "784" "9207" "9990" "03840" "2022-12-05 14:02:01" "" "" ## 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}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00427137" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup H, individual 33" "" "" "" "" "0" "" "" "" "H_33" "00427139" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup U7, individual 35" "" "" "" "" "0" "" "" "" "U7_35" "00434056" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00427137" "04214" "00427139" "04214" "00434056" "00138" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 04214 ## Count = 3 "{{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}}" "0000318154" "04214" "00427137" "00000" "Maternal, mitochondrial" "" "nystagmus" "" "" "" "" "" "" "" "" "" "0000318156" "04214" "00427139" "00000" "Maternal, mitochondrial" "" "nystagmus" "" "" "" "" "" "" "" "" "" "0000324435" "00138" "00434056" "03544" "Isolated (sporadic)" "" "intellectual disability, autism" "" "" "" "" "" "" "" "" "" ## 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}}" "0000428458" "00427137" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428460" "00427139" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000435520" "00434056" "1" "03544" "03544" "2023-03-18 14:06:33" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000428458" "MT-CO3" "0000428460" "MT-ATP6" ## 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 = 11 "{{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}}" "0000906254" "20" "50" "M" "9391" "9391" "subst" "0" "00000" "MT-CO3_000001" "m.9391C>T" "" "{PMID:Widgren 2016:26448634}" "" "COIII - T62M, 9391 T" "" "Unknown" "?" "" "0" "" "" "m.9391C>T" "" "VUS" "" "0000906273" "20" "50" "M" "9480" "9480" "subst" "0" "00000" "MT-CO3_000002" "m.9480T>C" "" "{PMID:Widgren 2016:26448634}" "" "COIII - F92L, 9480 C" "" "Unknown" "?" "" "0" "" "" "m.9480T>C" "" "VUS" "" "0000921532" "0" "70" "M" "9478" "9478" "del" "0" "03544" "MT-CO3_000003" "m.9478del" "" "" "" "" "heteroplasmy 0.20 in proband and her monozygotic twin" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000927439" "0" "10" "M" "14905" "14905" "subst" "0" "02326" "MT-CO1_000007" "m.14905G>A" "" "" "" "MT-CYB(NC_012920.1):m.14905G>A (p.M53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984896" "0" "50" "M" "14279" "14279" "subst" "0" "01804" "MT-CO1_000008" "m.14279G>A" "" "" "" "MT-ND6(ENST00000361681.2):c.395C>T (p.(Ser132Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044552" "0" "90" "M" "1494" "1494" "subst" "0" "02326" "MT-CO1_000009" "m.1494C>T" "" "" "" "MT-RNR1(NC_012920.1):m.1494C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001044553" "0" "10" "M" "4295" "4295" "subst" "0" "02326" "MT-CO1_000010" "m.4295A>G" "" "" "" "MT-TI(NC_012920.1):m.4295A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001044554" "0" "50" "M" "8010" "8010" "subst" "0" "01804" "MT-CO1_000011" "m.8010T>C" "" "" "" "MT-CO2(ENST00000361739.1):c.425T>C (p.(Val142Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044555" "0" "30" "M" "8527" "8527" "subst" "0" "01804" "MT-CO1_000012" "m.8527A>G" "" "" "" "MT-ATP6(ENST00000361899.2):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044556" "0" "30" "M" "9804" "9804" "subst" "0" "01804" "MT-CO1_000013" "m.9804G>A" "" "" "" "MT-CO3(ENST00000362079.2):c.598G>A (p.(Ala200Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057461" "0" "50" "M" "9017" "9017" "subst" "0" "01804" "MT-CO1_000014" "m.9017T>C" "" "" "" "MT-ATP6(ENST00000361899.2):c.491T>C (p.(Ile164Thr))" "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 MT-CO3 ## Count = 11 "{{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}}" "0000906254" "00025764" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Thr62Met)" "" "0000906273" "00025764" "50" "274" "0" "274" "0" "c.274T>C" "r.(?)" "p.(Phe92Leu)" "" "0000921532" "00025764" "70" "272" "0" "272" "0" "c.272del" "r.?" "p.?" "" "0000927439" "00025764" "10" "5699" "0" "5699" "0" "c.*4915G>A" "r.(=)" "p.(=)" "" "0000984896" "00025764" "50" "5073" "0" "5073" "0" "c.*4289G>A" "r.(=)" "p.(=)" "" "0001044552" "00025764" "90" "-7713" "0" "-7713" "0" "c.-7713C>T" "r.(?)" "p.(=)" "" "0001044553" "00025764" "10" "-4912" "0" "-4912" "0" "c.-4912A>G" "r.(?)" "p.(=)" "" "0001044554" "00025764" "50" "-1197" "0" "-1197" "0" "c.-1197T>C" "r.(?)" "p.(=)" "" "0001044555" "00025764" "30" "-680" "0" "-680" "0" "c.-680A>G" "r.(?)" "p.(=)" "" "0001044556" "00025764" "30" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.?" "" "0001057461" "00025764" "50" "-190" "0" "-190" "0" "c.-190T>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000428458" "0000906254" "0000428460" "0000906273" "0000435520" "0000921532"