### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFB10) # 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}}" "NDUFB10" "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa" "16" "p13.3" "unknown" "NC_000016.9" "UD_132378479218" "" "http://www.LOVD.nl/NDUFB10" "" "1" "7696" "4716" "603843" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NDUFB10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-09-16 10:21:44" "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}}" "00014427" "NDUFB10" "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa" "001" "NM_004548.2" "" "NP_004539.1" "" "" "" "-109" "588" "519" "2009517" "2011976" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00081130" "" "" "" "1" "" "01206" "{PMID:Friederich 2017:28040730}" "" "F" "no" "United States" "00y00m02d" "0" "" "" "" "patient 1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00081130" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 1 "{{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}}" "0000187789" "00198" "00081130" "01206" "Isolated (sporadic)" "" "fatal infantile lactic acidosis, cardiomyopathy; profoundly decreased activity of respiratory chain complex I in muscle, heart and liver" "" "" "" "" "" "" "" "" "" "fatal infantile lactic acidosis, cardiomyopathy," "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081242" "00081130" "1" "01206" "01206" "2016-09-16 00:22:27" "00006" "2019-07-28 12:06:10" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000081242" "NDUFB10" ## 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 = 6 "{{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}}" "0000130331" "21" "90" "16" "2011547" "2011547" "subst" "0" "01206" "NDUFB10_000002" "g.2011547T>C" "" "{PMID:Friederich 2017:28040730}" "" "" "causes failure of importation by the intermembrane space import machinery" "Germline" "" "" "0" "" "" "g.1961546T>C" "" "pathogenic (recessive)" "" "0000130332" "11" "90" "16" "2011230" "2011230" "dup" "0" "01206" "NDUFB10_000001" "g.2011230dup" "" "{PMID:Friederich 2017:28040730}" "" "206_207insT" "causes nonsense mediated mRNA decay" "Germline" "" "" "0" "" "" "g.1961229dup" "" "pathogenic (recessive)" "" "0000909189" "0" "50" "16" "2011195" "2011195" "subst" "2.84326E-5" "03779" "NDUFB10_000003" "g.2011195T>C" "" "" "" "" "" "Unknown" "" "rs746790349" "0" "" "" "" "" "VUS" "" "0001040882" "0" "50" "16" "2009629" "2009629" "subst" "0" "01804" "NDUFB10_000004" "g.2009629C>T" "" "" "" "NDUFB10(NM_004548.3):c.4C>T (p.(Pro2Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055334" "0" "50" "16" "2011193" "2011193" "subst" "1.21853E-5" "01804" "NDUFB10_000005" "g.2011193A>G" "" "" "" "NDUFB10(NM_004548.3):c.170A>G (p.(Tyr57Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055335" "0" "50" "16" "2011241" "2011241" "subst" "0" "01804" "NDUFB10_000006" "g.2011241A>G" "" "" "" "NDUFB10(NM_004548.3):c.218A>G (p.(Glu73Gly))" "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 NDUFB10 ## Count = 6 "{{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}}" "0000130331" "00014427" "90" "319" "0" "319" "0" "c.319T>C" "r.319u>c" "p.Cys107Arg" "" "0000130332" "00014427" "90" "207" "0" "207" "0" "c.207dup" "r.0" "p.0" "" "0000909189" "00014427" "50" "172" "0" "172" "0" "c.172T>C" "r.(?)" "p.(Tyr58His)" "" "0001040882" "00014427" "50" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.(Pro2Ser)" "" "0001055334" "00014427" "50" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(Tyr57Cys)" "" "0001055335" "00014427" "50" "218" "0" "218" "0" "c.218A>G" "r.(?)" "p.(Glu73Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000081242" "0000130331" "0000081242" "0000130332"