### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND4) # 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-ND4" "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4" "M" "" "unknown" "NC_012920.1" "NC_012920.1" "" "https://www.LOVD.nl/MT-ND4" "" "1" "7459" "4538" "516003" "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" "2021-02-26 12:57:47" "" "" "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}}" "00025604" "MT-ND4" "transcript variant 1" "001" "NC_012920.1(ND4_v001)" "" "" "" "" "" "1" "1378" "1378" "10760" "12137" "00006" "2021-03-08 11:33:26" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05684" "neuropathy, optic" "neuropathy, optic" "" "" "" "" "" "00006" "2020-01-10 11:57:41" "00091" "2021-02-19 09:59:43" ## 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}}" "00329131" "" "" "" "1" "" "03952" "{PMID:Li 2020:32855858}" "" "?" "?" "China" "" "" "" "" "" "" "00427126" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup T2, individual 10" "" "" "" "" "0" "" "" "" "T2_10" "00427140" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup H, individual 38" "" "" "" "" "0" "" "" "" "H_38" "00457916" "" "" "" "1" "" "00006" "{PMID:Rudy 2022:36873089}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "African-American;white" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00329131" "05684" "00427126" "04214" "00427140" "04214" "00457916" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04214, 05611, 05684 ## Count = 4 "{{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}}" "0000247329" "05684" "00329131" "03952" "Familial, autosomal recessive" "" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138);" "" "38y" "" "" "" "" "" "" "" "0000318143" "04214" "00427126" "00000" "Maternal, mitochondrial" "" "optic neuropathy" "" "" "" "" "" "" "" "" "" "0000318157" "04214" "00427140" "00000" "Maternal, mitochondrial" "" "retinal degeneration and nystagmus" "" "" "" "" "" "" "" "" "" "0000346366" "05611" "00457916" "00006" "Familial, X-linked" "03y" "see paper; ..., birth normal growth parameters, poor growth early in life, global developmental delay, microcephaly, EEG abnormal, seizures, mild dyskinetic movements (at 4m), early childhood MRI brain normal, feeding difficulties, reflux, vomiting, constipation, scoliosis, contractures, hearing impairment, cortical visual impairment, exotropia, esotropia, optic nerve atrophy, dyspigmentation skin, irritability, poor sleep" "" "00y07m" "" "" "" "" "" "SPDRS" "dysphagia, failure to thrive, electrolyte abnormalities, cortical visual impairment, developmental 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}}" "0000336950" "00329131" "1" "03952" "03952" "2021-03-08 10:49:53" "" "" "SEQ-NG" "DNA" "" "" "0000428447" "00427126" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428461" "00427140" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000459536" "00457916" "1" "00006" "00006" "2024-11-21 10:52:30" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000336950" "MT-ND4" "0000428447" "MT-ND2" "0000428461" "MT-ND4" ## 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}}" "0000906257" "20" "50" "M" "11069" "11069" "subst" "0" "00000" "MT-ND4_000001" "m.11069A>G" "" "{PMID:Widgren 2016:26448634}" "" "ND4 - I104V, 11069 G" "" "Unknown" "?" "" "0" "" "" "m.11069A>G" "" "VUS" "" "0000906267" "20" "50" "M" "11963" "11963" "subst" "0" "00000" "MT-ND4_000002" "m.11963G>A" "" "{PMID:Widgren 2016:26448634}" "" "ND4 - V402I, 11963 A" "" "Unknown" "?" "" "0" "" "" "m.11963G>A" "" "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" "" "0001017590" "0" "50" "M" "11420" "11420" "subst" "0" "00006" "MT-ND4_000003" "m.11420G>A" "" "{PMID:Rudy 2022:36873089}" "" "" "blood 0.02 heteroplasmy" "Somatic" "" "" "0" "" "" "m.11420G>A" "" "VUS" "" "0001021337" "21" "90" "M" "11253" "11253" "subst" "0" "00091" "MT-ND4_000004" "m.11253T>C" "" "{PMID:Li 2020:32855858}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "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" "" ## 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-ND4 ## 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}}" "0000906257" "00025604" "50" "310" "0" "310" "0" "c.310A>G" "r.(?)" "p.(Ile104Val)" "" "0000906267" "00025604" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Val402Ile)" "" "0000927439" "00025604" "10" "4146" "0" "4146" "0" "c.*2768G>A" "r.(=)" "p.(=)" "" "0000984896" "00025604" "50" "3520" "0" "3520" "0" "c.*2142G>A" "r.(=)" "p.(=)" "" "0001017590" "00025604" "50" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Val221Ile)" "" "0001021337" "00025604" "90" "494" "0" "494" "0" "c.494T>C" "r.(?)" "p.(Ile165Ser)" "" "0001044552" "00025604" "90" "-9266" "0" "-9266" "0" "c.-9266C>T" "r.(?)" "p.(=)" "" "0001044553" "00025604" "10" "-6465" "0" "-6465" "0" "c.-6465A>G" "r.(?)" "p.(=)" "" "0001044554" "00025604" "50" "-2750" "0" "-2750" "0" "c.-2750T>C" "r.(?)" "p.(=)" "" "0001044555" "00025604" "30" "-2233" "0" "-2233" "0" "c.-2233A>G" "r.(?)" "p.(=)" "" "0001044556" "00025604" "30" "-956" "0" "-956" "0" "c.-956G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000336950" "0001021337" "0000428447" "0000906267" "0000428461" "0000906257" "0000459536" "0001017590"