### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFS3) # 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}}" "NDUFS3" "NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)" "11" "p11.11" "unknown" "NC_000011.9" "UD_132085262023" "" "https://www.LOVD.nl/NDUFS3" "" "1" "7710" "4722" "603846" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/NDUFS3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-23 14:42:21" "00006" "2024-09-25 11:51:01" ## 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}}" "00014434" "NDUFS3" "NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)" "001" "NM_004551.2" "" "NP_004542.1" "" "" "" "-82" "877" "795" "47600562" "47606115" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00038" "LS" "Leigh syndrome (LS)" "AR;Mi" "256000" "" "" "" "00008" "2012-08-30 16:26:44" "00006" "2025-01-31 09:48:07" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" "06132" "MC1DN8" "Mi complex I deficiency, nuclear type 8" "AR" "618230" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "NDUFS3" "00038" "NDUFS3" "00139" "NDUFS3" "00611" "NDUFS3" "06132" ## 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}}" "00065148" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "F" "?" "Switzerland" "00y02m" "0" "" "" "Europe" "SIDS156" "00290449" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00454696" "" "" "" "1" "" "00095" "{PMID:Legati 2016:26968897}" "" "F" "" "" "" "0" "" "" "" "NGSP36" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00065148" "02087" "00290449" "00198" "00454696" "05534" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00038, 00139, 00198, 00611, 02087, 05534, 06132 ## Count = 2 "{{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}}" "0000051253" "02087" "00065148" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000343324" "05534" "00454696" "00095" "Familial, autosomal recessive" "" "pshycomotor delay, encephalopathy" "0y" "" "" "" "" "" "" "" "" "complex I deficiency" "" ## 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}}" "0000291617" "00290449" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000433214" "00065148" "1" "01602" "01602" "2023-02-16 11:53:17" "" "" "SEQ-NG" "DNA" "" "" "0000456309" "00454696" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 21 "{{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}}" "0000296381" "0" "50" "11" "47603733" "47603733" "subst" "0.00248508" "02325" "NDUFS3_000002" "g.47603733G>C" "" "" "" "NDUFS3(NM_004551.2):c.475G>C (p.V159L), NDUFS3(NM_004551.3):c.475G>C (p.V159L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47582181G>C" "" "VUS" "" "0000296382" "0" "30" "11" "47603984" "47603984" "subst" "0.00307797" "02325" "NDUFS3_000003" "g.47603984T>C" "" "" "" "NDUFS3(NM_004551.2):c.591T>C (p.P197=), NDUFS3(NM_004551.3):c.591T>C (p.P197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47582432T>C" "" "likely benign" "" "0000296383" "0" "30" "11" "47600811" "47600811" "subst" "6.51402E-5" "02325" "NDUFS3_000001" "g.47600811C>T" "" "" "" "NDUFS3(NM_004551.3):c.68-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47579259C>T" "" "likely benign" "" "0000302962" "0" "50" "11" "47603733" "47603733" "subst" "0.00248508" "01943" "NDUFS3_000002" "g.47603733G>C" "" "" "" "NDUFS3(NM_004551.2):c.475G>C (p.V159L), NDUFS3(NM_004551.3):c.475G>C (p.V159L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47582181G>C" "" "VUS" "" "0000322235" "0" "50" "11" "47609585" "47609585" "subst" "7.92406E-6" "01804" "FAM180B_000001" "g.47609585T>C" "" "" "" "FAM180B(NM_001164379.1):c.157-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47588033T>C" "" "VUS" "" "0000349727" "0" "50" "11" "47599097" "47599097" "subst" "0" "02327" "KBTBD4_000002" "g.47599097C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47577545C>T" "" "VUS" "" "0000544512" "0" "30" "11" "47603943" "47603943" "subst" "8.12117E-6" "01804" "FAM180B_000002" "g.47603943C>G" "" "" "" "NDUFS3(NM_004551.2):c.550C>G (p.(Leu184Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47582391C>G" "" "likely benign" "" "0000613444" "0" "30" "11" "47597140" "47597140" "subst" "0" "01804" "KBTBD4_000003" "g.47597140C>G" "" "" "" "KBTBD4(NM_016506.5):c.696+5G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47575588C>G" "" "likely benign" "" "0000613445" "0" "30" "11" "47605991" "47605991" "subst" "1.21817E-5" "01943" "FAM180B_000003" "g.47605991T>A" "" "" "" "NDUFS3(NM_004551.2):c.753T>A (p.S251R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47584439T>A" "" "likely benign" "" "0000648306" "1" "90" "11" "47603961" "47603962" "del" "0" "03575" "NDUFS3_000004" "g.47603961_47603962del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863224107}" "Germline" "" "rs863224107" "0" "" "" "g.47582409_47582410del" "" "pathogenic" "" "0000679221" "0" "50" "11" "47605974" "47605974" "subst" "0.000227391" "02325" "FAM180B_000004" "g.47605974C>T" "" "" "" "NDUFS3(NM_004551.3):c.736C>T (p.R246C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805178" "0" "30" "11" "47602156" "47602156" "subst" "0" "01943" "KBTBD4_000004" "g.47602156G>A" "" "" "" "NDUFS3(NM_004551.2):c.213G>A (p.K71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805179" "0" "50" "11" "47602541" "47602541" "subst" "0" "01943" "KBTBD4_000005" "g.47602541G>C" "" "" "" "NDUFS3(NM_004551.2):c.381+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805180" "0" "30" "11" "47605970" "47605970" "subst" "0" "01943" "FAM180B_000005" "g.47605970C>T" "" "" "" "NDUFS3(NM_004551.2):c.732C>T (p.V244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853026" "0" "30" "11" "47603984" "47603984" "subst" "0.00307797" "01943" "NDUFS3_000003" "g.47603984T>C" "" "" "" "NDUFS3(NM_004551.2):c.591T>C (p.P197=), NDUFS3(NM_004551.3):c.591T>C (p.P197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918849" "0" "70" "11" "47603988" "47603988" "subst" "1.6243E-5" "01602" "NDUFS3_000005" "g.47603988C>T" "" "" "" "" "" "Unknown" "" "rs104894270" "" "" "" "" "" "likely pathogenic" "ACMG" "0000925431" "0" "30" "11" "47602183" "47602183" "subst" "3.24971E-5" "02330" "KBTBD4_000006" "g.47602183T>C" "" "" "" "NDUFS3(NM_004551.3):c.231+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999126" "0" "50" "11" "47605989" "47605990" "dup" "0" "01804" "FAM180B_000006" "g.47605989_47605990dup" "" "" "" "NDUFS3(NM_004551.2):c.751_752dupAG (p.(Ser251fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999127" "0" "50" "11" "47605992" "47605992" "subst" "8.1211E-6" "01804" "FAM180B_000007" "g.47605992C>T" "" "" "" "NDUFS3(NM_004551.2):c.754C>T (p.(Leu252Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008555" "1" "90" "11" "47603677" "47603677" "subst" "0" "00095" "NDUFS3_000006" "g.47603677G>C" "" "{PMID:Legati 2016:26968897}" "" "R140P" "" "Germline" "" "" "0" "" "" "g.47582125G>C" "" "pathogenic" "" "0001008584" "2" "90" "11" "47603988" "47603988" "subst" "1.6243E-5" "00095" "NDUFS3_000005" "g.47603988C>T" "" "{PMID:Legati 2016:26968897}" "" "R199W" "" "Germline" "" "" "0" "" "" "g.47582436C>T" "" "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 NDUFS3 ## Count = 21 "{{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}}" "0000296381" "00014434" "50" "475" "0" "475" "0" "c.475G>C" "r.(?)" "p.(Val159Leu)" "" "0000296382" "00014434" "30" "591" "0" "591" "0" "c.591T>C" "r.(?)" "p.(Pro197=)" "" "0000296383" "00014434" "30" "68" "-10" "68" "-10" "c.68-10C>T" "r.(=)" "p.(=)" "" "0000302962" "00014434" "50" "475" "0" "475" "0" "c.475G>C" "r.(?)" "p.(Val159Leu)" "" "0000322235" "00014434" "50" "4347" "0" "4347" "0" "c.*3552T>C" "r.(=)" "p.(=)" "" "0000349727" "00014434" "50" "-1547" "0" "-1547" "0" "c.-1547C>T" "r.(?)" "p.(=)" "" "0000544512" "00014434" "30" "550" "0" "550" "0" "c.550C>G" "r.(?)" "p.(Leu184Val)" "" "0000613444" "00014434" "30" "-3504" "0" "-3504" "0" "c.-3504C>G" "r.(?)" "p.(=)" "" "0000613445" "00014434" "30" "753" "0" "753" "0" "c.753T>A" "r.(?)" "p.(Ser251Arg)" "" "0000648306" "00014434" "90" "568" "0" "569" "0" "c.568_569del" "r.(?)" "p.(Asp190Leufs*19)" "" "0000679221" "00014434" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Cys)" "" "0000805178" "00014434" "30" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(Lys71=)" "" "0000805179" "00014434" "50" "381" "5" "381" "5" "c.381+5G>C" "r.spl?" "p.?" "" "0000805180" "00014434" "30" "732" "0" "732" "0" "c.732C>T" "r.(?)" "p.(Val244=)" "" "0000853026" "00014434" "30" "591" "0" "591" "0" "c.591T>C" "r.(?)" "p.(Pro197=)" "" "0000918849" "00014434" "70" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Trp)" "" "0000925431" "00014434" "30" "231" "9" "231" "9" "c.231+9T>C" "r.(=)" "p.(=)" "" "0000999126" "00014434" "50" "751" "0" "752" "0" "c.751_752dup" "r.(?)" "p.(Ser251Argfs*37)" "" "0000999127" "00014434" "50" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Leu252Phe)" "" "0001008555" "00014434" "90" "419" "0" "419" "0" "c.419G>C" "r.(?)" "p.(Arg140Pro)" "" "0001008584" "00014434" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000291617" "0000648306" "0000433214" "0000918849" "0000456309" "0001008555" "0000456309" "0001008584"