### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND1) # 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-ND1" "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1" "M" "" "unknown" "NC_012920.1" "NC_012920.1" "" "https://www.LOVD.nl/MT-ND1" "" "1" "7455" "4535" "516000" "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" "2019-12-24 00:00:00" "00006" "2019-12-24 17:06:44" "03840" "2021-12-01 10:18:40" ## 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}}" "00025485" "MT-ND1" "transcript variant 1" "001" "NC_012920.1(ND1_v001)" "" "" "" "" "" "1" "956" "956" "3307" "4262" "00006" "2019-12-28 17:46:41" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "02274" "LHON" "atrophy, optic, Leber’s (LHON)" "AR;Mi" "535000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-24 15:22:10" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00274156" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat22" "00274190" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "F" "" "Poland" "" "0" "" "" "" "Pat64" "00359600" "" "" "" "1" "" "00095" "" "" "M" "no" "Italy" "" "" "" "" "" "" "00387644" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "32" "00387680" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "79" "00394346" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "LHON1" "00394347" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "LHON2" "00394348" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "LHON3" "00394349" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "LHON4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00274156" "00198" "00274190" "00198" "00359600" "02274" "00387644" "04214" "00387680" "04214" "00394346" "04214" "00394347" "04214" "00394348" "04214" "00394349" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02274, 04214 ## Count = 9 "{{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}}" "0000209101" "00198" "00274156" "00006" "Isolated (sporadic)" "" "3-MGA in urine; involvement basal ganglia; mitochondrial disease criteria score 8; muscle biopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000209135" "00198" "00274190" "00006" "Unknown" "" "neonatal onset; involvement basal ganglia; mitochondrial disease criteria score 6; muscle biopsy" "0d" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000254872" "02274" "00359600" "00095" "Unknown" "" "Optic neuropathy HP:0001138" "" "<20y" "" "" "" "" "" "" "" "" "" "0000281207" "04214" "00387644" "00000" "Maternal, mitochondrial" "" "" "" "" "" "" "" "" "" "" "Kearns sayre syndrome" "Childhood retinal disease" "" "0000281243" "04214" "00387680" "00000" "Maternal, mitochondrial" "" "" "" "" "" "" "" "" "" "" "Leber hereditary optic neuropathy" "Other" "" "0000287550" "04214" "00394346" "00000" "Maternal, mitochondrial" "" "LHON, onset of vision loss 18 y, completely blind 19 y" "18y" "" "" "" "" "" "" "" "Leber hereditary optic neuropathy" "" "" "0000287551" "04214" "00394347" "00000" "Maternal, mitochondrial" "" "LHON, symptoms 23 y" "23y" "" "" "" "" "" "" "" "Leber hereditary optic neuropathy" "" "" "0000287552" "04214" "00394348" "00000" "Maternal, mitochondrial" "" "LHON, symptoms 46 y" "46y" "" "" "" "" "" "" "" "Leber hereditary optic neuropathy" "" "" "0000287553" "04214" "00394349" "00000" "Maternal, mitochondrial" "" "LHON, legally blind, still has scotopic vision" "" "" "" "" "" "" "" "" "Leber hereditary optic neuropathy" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000275311" "00274156" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275345" "00274190" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360830" "00359600" "1" "00095" "00095" "2021-03-30 12:22:44" "" "" "SEQ" "DNA" "blood" "whole mtDNA" "0000388870" "00387644" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388906" "00387680" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000395593" "00394346" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395594" "00394347" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395595" "00394348" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395596" "00394349" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000275311" "MT-ND1" "0000275345" "MT-ND1" "0000360830" "MT-ND1" "0000388870" "MT-ND1" "0000388906" "MT-ND1" "0000395593" "MT-ND1" "0000395594" "MT-ND1" "0000395595" "MT-ND1" "0000395596" "MT-ND1" ## 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}}" "0000247717" "0" "10" "M" "8860" "8860" "subst" "0" "02330" "MT-CO1_000002" "m.8860A>G" "" "" "" "MT-ATP6(NC_012920.1):m.8860A>G (p.T112A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8859C>G" "" "benign" "" "0000247718" "0" "10" "M" "15326" "15326" "subst" "0" "02330" "MT-CO1_000003" "m.15326A>G" "" "" "" "MT-CYB(NC_012920.1):m.15326A>G (p.T194A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000629275" "0" "90" "M" "3902" "3908" "inv" "0" "00006" "MT-ND1_000001" "m.3902_3908inv" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "m.3902_3908invACCTTGC" "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.3902_3908inv" "" "pathogenic (dominant)" "" "0000629309" "3" "90" "M" "3688" "3688" "subst" "0" "00006" "MT-ND1_000002" "m.3688G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "homoplasmic\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." "Germline/De novo (untested)" "" "" "0" "" "" "m.3688G>A" "" "pathogenic (dominant)" "" "0000760933" "21" "90" "M" "3632" "3632" "subst" "0" "00095" "MT-ND1_000003" "m.3632C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "m.3632C>T" "" "VUS" "" "0000817657" "0" "70" "M" "" "" "" "" "00000" "MT-ND1_000004" "g.?" "" "{PMID:Zanolli 2020:32141364}" "" "Mt deletion 4400 BP" "no protein change given, error in annotation, no mitochondrial gene/site indicated, mosaic" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000817704" "0" "70" "M" "3460" "3460" "subst" "0" "00000" "MT-ND1_000005" "m.3460G>A" "" "{PMID:Zanolli 2020:32141364}" "" "MT-MD1 m.3460G>A" "no protein change given, error in gene name, should be MT-ND1 instead of MT-MD1, mosaic" "Unknown" "?" "" "0" "" "" "m.3460G>A" "" "likely pathogenic" "" "0000826976" "0" "90" "M" "3460" "3460" "subst" "0" "00000" "MT-ND1_000005" "m.3460G>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "MT-ND1 m.3460G>A, p.Ala52Thr" "homoplasmic" "Unknown" "?" "" "0" "" "" "m.3460G>A" "" "pathogenic" "" "0000826977" "0" "90" "M" "3460" "3460" "subst" "0" "00000" "MT-ND1_000005" "m.3460G>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "MT-ND1 m.3460G>A, p.Ala52Thr" "homoplasmic" "Unknown" "?" "" "0" "" "" "m.3460G>A" "" "pathogenic" "" "0000826978" "0" "90" "M" "3460" "3460" "subst" "0" "00000" "MT-ND1_000005" "m.3460G>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "MT-ND1 m.3460G>A, p.Ala52Thr" "homoplasmic" "Unknown" "?" "" "0" "" "" "m.3460G>A" "" "pathogenic" "" "0000826979" "0" "90" "M" "3460" "3460" "subst" "0" "00000" "MT-ND1_000005" "m.3460G>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "MT-ND1 m.3460G>A, p.Ala52Thr" "homoplasmic" "Unknown" "?" "" "0" "" "" "m.3460G>A" "" "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-ND1 ## 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}}" "0000247717" "00025485" "10" "5554" "0" "5554" "0" "c.*4598A>G" "r.(=)" "p.(=)" "" "0000247718" "00025485" "10" "12020" "0" "12020" "0" "c.*11064A>G" "r.(=)" "p.(=)" "" "0000629275" "00025485" "90" "596" "0" "602" "0" "c.596_602inv" "r.(?)" "p.?" "" "0000629309" "00025485" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Ala128Thr)" "" "0000760933" "00025485" "90" "326" "0" "326" "0" "c.326C>T" "r.(326c>u)" "p.(Ser109Phe)" "" "0000817657" "00025485" "70" "" "0" "" "0" "m.?" "r.(?)" "p.(?)" "" "0000817704" "00025485" "70" "3460" "0" "3460" "0" "m.3460G>A" "r.(?)" "p.(?)" "" "0000826976" "00025485" "90" "3460" "0" "3460" "0" "m.3460G>A" "r.(?)" "p.(Ala52Thr)" "" "0000826977" "00025485" "90" "3460" "0" "3460" "0" "m.3460G>A" "r.(?)" "p.(Ala52Thr)" "" "0000826978" "00025485" "90" "3460" "0" "3460" "0" "m.3460G>A" "r.(?)" "p.(Ala52Thr)" "" "0000826979" "00025485" "90" "3460" "0" "3460" "0" "m.3460G>A" "r.(?)" "p.(Ala52Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000275311" "0000629275" "0000275345" "0000629309" "0000360830" "0000760933" "0000388870" "0000817657" "0000388906" "0000817704" "0000395593" "0000826976" "0000395594" "0000826977" "0000395595" "0000826978" "0000395596" "0000826979"