### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-CO1) # 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-CO1" "mitochondrially encoded cytochrome c oxidase I" "M" "" "no" "NC_012920.1" "NC_012920.1" "" "" "" "1" "7419" "4512" "516030" "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" "00006" "2016-09-16 12:34:06" "" "" "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}}" "00024170" "MT-CO1" "transcript variant 1" "001" "NC_012920.1(COX1_v001)" "" "" "" "" "" "1" "1542" "1542" "5904" "7445" "00006" "2016-09-16 12:40:58" "" "" ## 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}}" "01898" "DLDD" "dihydrolipoamide dehydrogenase deficiency (DLDD)" "AR" "246900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05179" "MTCO1" "deficiency, cytochrome Coxidase subunit I (MTCO-1)" "" "516030" "" "" "" "00006" "2016-09-13 15:57:13" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MT-CO1" "05179" ## 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}}" "00080796" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00427126" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup T2, individual 10" "" "" "" "" "0" "" "" "" "T2_10" "00427138" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup H1, individual 34" "" "" "" "" "0" "" "" "" "H1_34" "00427720" "" "" "" "2" "" "00006" "{PMID:Palmer 2022:36385166}" "2-generation family, affected male, mother mosaic" "M" "" "Mexico" "" "0" "" "" "" "B6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00080796" "01898" "00080796" "05179" "00427126" "04214" "00427138" "04214" "00427720" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01898, 04214, 05179, 05611 ## Count = 5 "{{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}}" "0000060365" "01898" "00080796" "01758" "Familial, autosomal recessive" "" "Dihydrolipoamide dehydrogenase deficiency (OMIM:246900)" "" "" "" "" "" "" "" "" "" "0000060674" "05179" "00080796" "01758" "Maternal, mitochondrial" "" "Cytochrome c oxidase subunit I (OMIM:516030)" "" "" "" "" "" "" "" "" "" "0000318143" "04214" "00427126" "00000" "Maternal, mitochondrial" "" "optic neuropathy" "" "" "" "" "" "" "" "" "" "0000318155" "04214" "00427138" "00000" "Maternal, mitochondrial" "" "nystagmus" "" "" "" "" "" "" "" "" "" "0000318734" "05611" "00427720" "00006" "Familial, X-linked" "14y" "see paper; ..., age onset early childhood; moderate intellectual disability; Infantile hypotonia (son); recurrent otitis media requiring placement ventilation tubes (son); proband: bilateral optic nerve hypoplasia, myopia, astigmatism, strabismus (3y/9y-surgery), amblyopia left eye; delayed speech; attention deficit hyperactivity disorder, hyperkinesis, inattention, impulsiveness, obsessiveness, rigidity, anger outbursts; proband sees psychologist; 13y-onset seizures, focal onset frontal lobe hyper motor seizure; EEG (2008)-slowing in occipital region, EEG (2017)-slow background, no epileptiform discharges, EEG (2020)-normal, vEEG (2021)- 8 typical spells of arousing from sleep with altered behavior consistent with focal-onset frontal lobe seizure based on semiology, without clear consistent lateralized electroencephalographic seizure pattern discernible, recurrent frontotemporal epileptiform discharges in sleep with maximal negativity over the left or right anterior temporal region, recurrent - frequent frontal slow wave potentials in sleep; MRI brain partial agenesis and dysplasia of corpus callosum, hypoplastic optic nerves and chiasm; weight 25th - 50th centile; height 25th -50th centile; OFC 50th-98th centile; no dysmorphic feturres; severe constipation with encopresis, unexplained weight loss which resolved (BMI ~50% currently); elevated finger pads, fifth finger clinodactyly" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## 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}}" "0000080908" "00080796" "1" "01758" "00006" "2016-09-07 13:24:08" "00006" "2016-09-16 12:37:53" "SEQ;SEQ-NG" "DNA" "" "" "0000428447" "00427126" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428459" "00427138" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000429043" "00427720" "1" "00006" "00006" "2022-12-12 19:44:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000080908" "DLD" "0000080908" "MT-CO1" "0000428447" "MT-ND2" "0000428459" "MT-CO1" ## 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 = 12 "{{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}}" "0000130333" "21" "70" "M" "7443" "7443" "subst" "0" "01758" "MT-CO1_000001" "m.7443A>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.7442T>C" "" "likely pathogenic" "" "0000906255" "20" "50" "M" "7309" "7309" "subst" "0" "00000" "MT-CO1_000005" "m.7309T>C" "" "{PMID:Widgren 2016:26448634}" "" "COI - I469T, 7309 C" "" "Unknown" "?" "" "0" "" "" "m.7309T>C" "" "VUS" "" "0000906266" "20" "50" "M" "6489" "6489" "subst" "0" "00000" "MT-CO1_000004" "m.6489C>A" "" "{PMID:Widgren 2016:26448634}" "" "COI - L196I, 6489 A" "" "Unknown" "?" "" "0" "" "" "m.6489C>A" "" "VUS" "" "0000908720" "0" "50" "M" "6347" "6347" "subst" "0" "00006" "MT-CO1_000006" "m.6347C>A" "" "{PMID:Palmer 2022:36385166}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "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-CO1 ## Count = 12 "{{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}}" "0000130333" "00024170" "70" "1540" "0" "1540" "0" "c.1540A>C" "r.(?)" "p.(*514Argext*?)" "-" "0000906255" "00024170" "50" "1406" "0" "1406" "0" "c.1406T>C" "r.(?)" "p.(Ile469Thr)" "" "0000906266" "00024170" "50" "586" "0" "586" "0" "c.586C>A" "r.(?)" "p.(Leu196Ile)" "" "0000908720" "00024170" "50" "444" "0" "444" "0" "c.444C>A" "r.(?)" "p.(Phe148Leu)" "" "0000927439" "00024170" "10" "9002" "0" "9002" "0" "c.*7460G>A" "r.(=)" "p.(=)" "" "0000984896" "00024170" "50" "8376" "0" "8376" "0" "c.*6834G>A" "r.(=)" "p.(=)" "" "0001044552" "00024170" "90" "-4410" "0" "-4410" "0" "c.-4410C>T" "r.(?)" "p.(=)" "" "0001044553" "00024170" "10" "-1609" "0" "-1609" "0" "c.-1609A>G" "r.(?)" "p.(=)" "" "0001044554" "00024170" "50" "2107" "0" "2107" "0" "c.*565T>C" "r.(=)" "p.(=)" "" "0001044555" "00024170" "30" "2624" "0" "2624" "0" "c.*1082A>G" "r.(=)" "p.(=)" "" "0001044556" "00024170" "30" "3901" "0" "3901" "0" "c.*2359G>A" "r.(=)" "p.(=)" "" "0001057461" "00024170" "50" "3114" "0" "3114" "0" "c.*1572T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000080908" "0000130333" "0000428447" "0000906266" "0000428459" "0000906255" "0000429043" "0000908720"