### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND6) # 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-ND6" "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6" "M" "" "unknown" "NC_012920.1" "NC_012920.1" "" "https://www.LOVD.nl/MT-ND6" "" "1" "7462" "4541" "516006" "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 17:14:50" "" "" "03840" "2022-12-05 15:29:01" ## 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}}" "00025765" "MT-ND6" "transcript variant 1" "001" "NC_012920.1(MT-ND6)" "" "" "" "" "" "1" "525" "525" "14149" "14673" "00001" "2022-12-05 14:27:14" "" "" ## 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}}" "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-ND6" "05534" ## 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}}" "00427131" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup U5a1, individual 21" "" "" "" "" "0" "" "" "" "U5a1_21" "00427134" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup U5, individual 30" "" "" "" "" "0" "" "" "" "U5_30" "00427135" "" "" "" "1" "" "00000" "{PMID:Widgren 2016:26448634}" "haplogroup U5, individual 31" "" "" "" "" "0" "" "" "" "U5_31" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00427131" "04214" "00427134" "04214" "00427135" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04214, 05534 ## 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}}" "0000318148" "04214" "00427131" "00000" "Maternal, mitochondrial" "" "nystagmus" "" "" "" "" "" "" "" "" "" "0000318151" "04214" "00427134" "00000" "Maternal, mitochondrial" "" "nystagmus" "" "" "" "" "" "" "" "" "" "0000318152" "04214" "00427135" "00000" "Maternal, mitochondrial" "" "nystagmus" "" "" "" "" "" "" "" "" "" ## 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}}" "0000428452" "00427131" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428455" "00427134" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" "0000428456" "00427135" "1" "00000" "03840" "2022-12-05 15:28:59" "" "" "CSGE;SEQ" "DNA" "blood" "retrospective study" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000428452" "MT-ND6" "0000428455" "MT-ND6" "0000428456" "MT-ND6" ## 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}}" "0000906248" "20" "50" "M" "14198" "14198" "subst" "0" "00000" "MT-ND6_000002" "m.14198G>A" "" "{PMID:Widgren 2016:26448634}" "" "ND6 - T159M, 14198 A" "" "Unknown" "?" "" "0" "" "" "m.14198G>A" "" "VUS" "" "0000906251" "20" "50" "M" "14198" "14198" "subst" "0" "00000" "MT-ND6_000002" "m.14198G>A" "" "{PMID:Widgren 2016:26448634}" "" "ND6 - T159M, 14198 A" "" "Unknown" "?" "" "0" "" "" "m.14198G>A" "" "VUS" "" "0000906252" "20" "50" "M" "14198" "14198" "subst" "0" "00000" "MT-ND6_000002" "m.14198G>A" "" "{PMID:Widgren 2016:26448634}" "" "ND6 - T159M, 14198 A" "" "Unknown" "?" "" "0" "" "" "m.14198G>A" "" "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-ND6 ## 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}}" "0000906248" "00025765" "50" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Thr159Met)" "" "0000906251" "00025765" "50" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Thr159Met)" "" "0000906252" "00025765" "50" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Thr159Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000428452" "0000906248" "0000428455" "0000906251" "0000428456" "0000906252"