### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFAF4) # 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}}" "NDUFAF4" "NADH dehydrogenase (ubiquinone) complex I, assembly factor 4" "6" "q16.3" "unknown" "NG_013379.1" "UD_132118336939" "" "https://www.LOVD.nl/NDUFAF4" "" "1" "21034" "29078" "611776" "1" "1" "1" "1" "Alias C6ORF66.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/NDUFAF4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-07-19 09:41:30" "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}}" "00014414" "NDUFAF4" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4" "001" "NM_014165.3" "" "NP_054884.1" "" "" "" "-90" "2321" "528" "97345767" "97337187" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05163" "-" "mitochondrial respiratory chain deficiency" "" "" "" "" "" "00006" "2016-05-10 22:28:03" "00006" "2016-12-16 10:26:08" "06716" "MC1DN15" "Mi complex I deficiency, nuclear type 15" "AR" "618237" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NDUFAF4" "00611" "NDUFAF4" "06716" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00104960" "" "" "" "1" "" "01906" "" "" "M" "yes" "Germany" "" "0" "" "" "" "" "00107834" "" "" "" "9" "" "00006" "{PMID:Saada 2008:18179882}, {DOI:Saada 2008:10.1016/j.ajhg.2007.08.003}" "5-generation family, 9 affecteds (5F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Israel" "" "0" "" "" "Arab, muslim" "18179882-Fam" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00104960" "05163" "00107834" "00611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00611, 05163, 06716 ## Count = 2 "{{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}}" "0000082843" "05163" "00104960" "01906" "Familial, autosomal recessive" "" "Leigh syndrome" "" "" "" "" "" "" "" "" "" "0000085575" "00611" "00107834" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105435" "00104960" "1" "01906" "01906" "2017-06-13 15:33:13" "" "" "SEQ-NG" "DNA" "" "" "0000108303" "00107834" "1" "00006" "00006" "2017-07-19 09:48:04" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000108303" "NDUFAF4" ## 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 = 10 "{{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}}" "0000170856" "0" "90" "6" "97345671" "97345671" "subst" "0" "01906" "NDUFAF4_000001" "g.97345671C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.96897795C>G" "" "pathogenic" "" "0000174214" "3" "90" "6" "97344666" "97344666" "subst" "0" "01906" "NDUFAF4_000002" "g.97344666A>G" "" "{PMID:Saada 2008:18179882}, {DOI:Saada 2008:10.1016/j.ajhg.2007.08.003}, {OMIM611776:0001}" "" "" "homozygosity mapping and candidate gene sequencing" "Germline" "yes" "" "0" "" "" "g.96896790A>G" "" "pathogenic" "" "0000248585" "0" "10" "6" "97339078" "97339078" "subst" "0.525656" "02325" "NDUFAF4_000003" "g.97339078A>G" "" "" "" "NDUFAF4(NM_014165.4):c.430T>C (p.L144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96891202A>G" "" "benign" "" "0000296363" "0" "10" "6" "97339285" "97339285" "dup" "0" "02325" "NDUFAF4_000005" "g.97339285dup" "" "" "" "NDUFAF4(NM_014165.4):c.241-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96891409dup" "" "benign" "" "0000296364" "0" "10" "6" "97339088" "97339088" "subst" "0.895995" "02325" "NDUFAF4_000004" "g.97339088C>T" "" "" "" "NDUFAF4(NM_014165.4):c.420G>A (p.Q140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96891212C>T" "" "benign" "" "0000530011" "0" "70" "6" "97339268" "97339268" "subst" "0" "01943" "NDUFAF4_000006" "g.97339268C>A" "" "" "" "NDUFAF4(NM_014165.3):c.241-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96891392C>A" "" "likely pathogenic" "" "0000530012" "0" "90" "6" "97345671" "97345671" "subst" "0" "02327" "NDUFAF4_000001" "g.97345671C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96897795C>G" "" "pathogenic" "" "0000802771" "0" "90" "6" "97344722" "97344722" "del" "0" "02329" "KLHL32_000002" "g.97344722del" "" "" "" "NDUFAF4(NM_014165.4):c.138delC (p.Y47Ifs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860542" "0" "50" "6" "97339137" "97339137" "subst" "2.84678E-5" "01943" "NDUFAF4_000007" "g.97339137T>C" "" "" "" "NDUFAF4(NM_014165.3):c.371A>G (p.N124S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052446" "0" "50" "6" "97339239" "97339239" "subst" "6.12855E-5" "01804" "NDUFAF4_000008" "g.97339239G>A" "" "" "" "NDUFAF4(NM_014165.4):c.269C>T (p.(Pro90Leu))" "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 NDUFAF4 ## Count = 10 "{{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}}" "0000170856" "00014414" "90" "7" "0" "7" "0" "c.7G>C" "r.(?)" "p.(Ala3Pro)" "1" "0000174214" "00014414" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Leu65Pro)" "2" "0000248585" "00014414" "10" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Leu144=)" "" "0000296363" "00014414" "10" "241" "-9" "241" "-9" "c.241-9dup" "r.(=)" "p.(=)" "" "0000296364" "00014414" "10" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(Gln140=)" "" "0000530011" "00014414" "70" "241" "-1" "241" "-1" "c.241-1G>T" "r.spl?" "p.?" "" "0000530012" "00014414" "90" "7" "0" "7" "0" "c.7G>C" "r.(?)" "p.(Ala3Pro)" "" "0000802771" "00014414" "90" "138" "0" "138" "0" "c.138del" "r.(?)" "p.(Tyr47Ilefs*19)" "" "0000860542" "00014414" "50" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Asn124Ser)" "" "0001052446" "00014414" "50" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Pro90Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000105435" "0000170856" "0000108303" "0000174214"