### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND3) # 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-ND3" "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3" "M" "" "unknown" "NC_012920.1" "NC_012920.1" "" "https://www.LOVD.nl/MT-ND3" "" "1" "7458" "4537" "516002" "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" "2018-12-22 16:51:34" "" "" "00006" "2025-10-10 16:21:07" ## 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}}" "00025351" "MT-ND3" "transcript variant 1" "001" "NC_012920.1(ND3_v001)" "" "" "" "" "" "1" "346" "346" "10059" "10404" "00006" "2018-12-22 16:53:49" "" "" ## 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" "02274" "LHON" "Leber hereditary optic neuropathy" "AR;Mi" "535000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-09-29 11:06:24" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MT-ND3" "05534" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00209030" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "F" "" "Canada" "" "0" "" "" "" "28771251-Pat49" "00274185" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat57" "00359602" "" "" "" "1" "" "00095" "" "" "M" "no" "Italy" "" "" "" "" "" "" "00427136" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup J1, individual 32" "" "" "" "" "0" "" "" "" "J1_32" "00467296" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH430" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00209030" "05534" "00274185" "00198" "00359602" "02274" "00427136" "04214" "00467296" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02274, 04214, 05534 ## Count = 5 "{{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}}" "0000157636" "05534" "00209030" "00006" "Maternal, mitochondrial" "" "suspected mitochondrial disorder" "" "" "" "" "" "" "" "" "" "suspected mitochondrial disorder" "" "0000209130" "00198" "00274185" "00006" "Isolated (sporadic)" "" "involvement basal ganglia; mitochondrial disease criteria score 6; muscle biopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000254874" "02274" "00359602" "00095" "Unknown" "" "Optic neuropathy HP:0001138\r\nVisual loss HP:0000572" ">40y" "" "" "" "" "" "" "" "" "Leber optic atrophy HP:0001112" "" "0000318153" "04214" "00427136" "00000" "Maternal, mitochondrial" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000352503" "00198" "00467296" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Leigh syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000210087" "00209030" "1" "00006" "00006" "2018-12-22 15:10:51" "00006" "2018-12-22 16:51:58" "SEQ-NG" "DNA" "" "WGS" "0000275340" "00274185" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360832" "00359602" "1" "00095" "00095" "2021-03-30 12:38:10" "" "" "SEQ" "DNA" "" "" "0000428457" "00427136" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000468959" "00467296" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000210087" "MT-ND3" "0000275340" "MT-ND3" "0000428457" "MT-ND3" ## 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}}" "0000441256" "21" "90" "M" "10191" "10191" "subst" "0" "00006" "MT-ND3_000001" "m.10191T>C" "" "{PMID:Lionel 2018:28771251}" "" "" "heteroplasmy 0.55-0.80" "Germline" "" "" "0" "" "" "g.10190A>C" "" "pathogenic (dominant)" "" "0000629304" "0" "90" "M" "10254" "10254" "subst" "0" "00006" "MT-ND3_000002" "m.10254G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "heteroplasmic\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "m.10254G>A" "" "pathogenic (dominant)" "" "0000760935" "20" "50" "M" "10350" "10350" "subst" "0" "00095" "MT-ND3_000003" "m.10350C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "m.10350C>A" "" "VUS" "" "0000906253" "20" "50" "M" "10192" "10192" "subst" "0" "00000" "MT-ND3_000004" "m.10192C>T" "" "{PMID:Widgren 2016:26448634}" "" "ND3 - S45F, 10192 T" "" "Unknown" "?" "" "0" "" "" "m.10192C>T" "" "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" "" "0001049053" "21" "90" "M" "10158" "10158" "subst" "0" "00006" "MT-ND3_000005" "m.10158T>C" "" "{PMID:Soden 2014:25473036}" "" "m.10158T>C" "" "De novo" "" "" "0" "" "" "m.10158T>C" "" "pathogenic" "" ## 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-ND3 ## 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}}" "0000441256" "00025351" "90" "133" "0" "133" "0" "c.133T>C" "r.(?)" "p.(?)" "" "0000629304" "00025351" "90" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Asp66Asn)" "" "0000760935" "00025351" "50" "292" "0" "292" "0" "c.292C>A" "r.(292c>a)" "p.(Leu98Met)" "" "0000906253" "00025351" "50" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Ser45Phe)" "" "0000927439" "00025351" "10" "4847" "0" "4847" "0" "c.*4501G>A" "r.(=)" "p.(=)" "" "0000984896" "00025351" "50" "4221" "0" "4221" "0" "c.*3875G>A" "r.(=)" "p.(=)" "" "0001044552" "00025351" "90" "-8565" "0" "-8565" "0" "c.-8565C>T" "r.(?)" "p.(=)" "" "0001044553" "00025351" "10" "-5764" "0" "-5764" "0" "c.-5764A>G" "r.(?)" "p.(=)" "" "0001044554" "00025351" "50" "-2049" "0" "-2049" "0" "c.-2049T>C" "r.(?)" "p.(=)" "" "0001044555" "00025351" "30" "-1532" "0" "-1532" "0" "c.-1532A>G" "r.(?)" "p.(=)" "" "0001044556" "00025351" "30" "-255" "0" "-255" "0" "c.-255G>A" "r.(?)" "p.(=)" "" "0001049053" "00025351" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000210087" "0000441256" "0000275340" "0000629304" "0000360832" "0000760935" "0000428457" "0000906253" "0000468959" "0001049053"