### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFA3) # 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}}" "NDUFA3" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa" "19" "q13.42" "unknown" "NC_000019.9" "UD_132465814434" "" "https://www.LOVD.nl/NDUFA3" "" "1" "7686" "4696" "603832" "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/NDUFA3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-09-30 12:21:00" "00006" "2023-10-27 12:30:38" ## 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}}" "00014398" "NDUFA3" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa" "001" "NM_004542.3" "" "NP_004533.1" "" "" "" "-27" "327" "255" "54606160" "54610281" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00382950" "" "" "" "1" "" "01864" "" "mitochondrial complex I deficiency" "M" "no" "China" "" "" "" "" "Chinese" "iw237" "00385847" "" "" "" "1" "" "00000" "{PMID:Cho 2020:32000842}" "" "M" "" "(United States)" "" "0" "" "" "" "22" "00426363" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2017:28192796}" "family RP-0777, individual III:1, proband" "M" "" "Spain" "" "0" "" "" "Spanish" "RP-0777_III:1" "00426364" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2017:28192796}" "family RP-0777, individual II:4, proband\'s father" "M" "" "Spain" "" "0" "" "" "Spanish" "RP-0777_II:4" "00426367" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2017:28192796}" "family RP-0932, individual III:12, proband\'s father\'s paternal cousin" "F" "" "Spain" "" "0" "" "" "Spanish" "RP-0932_III:12" "00426368" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2017:28192796}" "family RP-0932, individual IV:12, proband\'s father\'s paternal cousin\'s daughter" "F" "" "Spain" "" "0" "" "" "Spanish" "RP-0932_IV:12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00382950" "00198" "00385847" "04214" "00426363" "04214" "00426364" "04214" "00426367" "04214" "00426368" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04214 ## Count = 6 "{{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}}" "0000276806" "00198" "00382950" "01864" "Familial, autosomal recessive" "" "HP:0004325; HP:0000364; HP:0001263; HP:0002317" "" "" "" "" "" "" "" "" "mitochondrial complex I deficiency" "psychomotor developmental delay" "" "0000279651" "04214" "00385847" "00000" "Familial, autosomal dominant" "40y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000317515" "04214" "00426363" "00000" "Familial, autosomal dominant" "37y" "symptoms (age, years): night blindness: 27; visual field constriction: 32; visual acuity loss: no; best corrected visual acuity right/left eye: ; visual field: islands; electroretinogram: ; fundus aspect:" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000317516" "04214" "00426364" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000317519" "04214" "00426367" "00000" "Familial, autosomal dominant" "51y" "symptoms (age, years): night blindness: unknown; visual field constriction: 14; visual acuity loss: 13; best corrected visual acuity right/left eye: 0.7/0.8; visual field: tubular; electroretinogram: nonrecordable; fundus aspect: typical rp; additional findings: none" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000317520" "04214" "00426368" "00000" "Familial, autosomal dominant" "28y" "symptoms (age, years): night blindness: unknown; visual field constriction: 17; visual acuity loss: no; best corrected visual acuity right/left eye: not available; visual field: not available; electroretinogram: not available; fundus aspect: not available; additional findings: none" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000384171" "00382950" "1" "01864" "01864" "2021-09-14 11:32:53" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WGS" "0000387075" "00385847" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG" "DNA" "blood" "after negative whole exome sequencing; GeneDx Retinal dystrophy Xpanded gene panel (880 genes)" "0000427683" "00426363" "1" "00000" "03840" "2022-11-29 14:39:27" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000427684" "00426364" "1" "00000" "03840" "2022-11-29 14:39:27" "" "" "SEQ" "DNA" "blood" "" "0000427687" "00426367" "1" "00000" "03840" "2022-11-29 14:39:27" "" "" "SEQ-NG;MLPA" "DNA" "blood" "" "0000427688" "00426368" "1" "00000" "03840" "2022-11-29 14:39:27" "" "" "SEQ-NG;MLPA" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000384171" "NDUFA3" "0000387075" "PRPF31" "0000427683" "PRPF31" "0000427684" "PRPF31" "0000427687" "PRPF31" "0000427688" "PRPF31" ## 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 = 7 "{{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}}" "0000798610" "11" "90" "19" "0" "0" "" "" "01864" "NDUFA3_000002" "g.54608143_(54610281_qter)" "" "" "" "g.54608143_64614387delinsGC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000798611" "21" "90" "19" "54610127" "54610127" "subst" "1.23003E-5" "01864" "NDUFA3_000001" "g.54610127G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000814929" "1" "70" "19" "54577171" "54630008" "del" "0" "00000" "PRPF31_000156" "g.54577171_54630008del" "" "{PMID:Cho 2020:32000842}" "" "chr19:54577171_54630008del" "Heterozygous" "Unknown" "?" "" "0" "" "" "g.54073923_54126760del" "" "likely pathogenic (dominant)" "" "0000905120" "11" "90" "19" "54602946" "54635178" "del" "0" "00000" "PRPF31_000156" "g.54602946_54635178del" "" "{PMID:Martin-Merida 2017:28192796}" "" "PRPF31 del chr19:54602946-54635178, deletion of OSCAR (E1 to E2), NDUFA3, TFPT and PRPF31" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54099655_54131887del" "" "pathogenic (dominant)" "" "0000905121" "0" "90" "19" "54602946" "54635178" "del" "0" "00000" "PRPF31_000156" "g.54602946_54635178del" "" "{PMID:Martin-Merida 2017:28192796}" "" "PRPF31 del chr19:54602946-54635178, deletion of OSCAR (E1 to E2), NDUFA3, TFPT and PRPF31" "heterozygous" "Germline/De novo (untested)" "0" "" "0" "" "" "g.54099655_54131887del" "" "pathogenic (dominant)" "" "0000905124" "10" "90" "19" "54602946" "54632693" "del" "0" "00000" "PRPF31_000156" "g.54602946_54632693del" "" "{PMID:Martin-Merida 2017:28192796}" "" "PRPF31 del chr19:54602946-54632693, deletion of OSCAR (E1 to E2), NDUFA3, TFPT, and PRPF31 (E1 to 13)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54099655_54129402del" "" "pathogenic (dominant)" "" "0000905125" "21" "90" "19" "54602946" "54632693" "del" "0" "00000" "PRPF31_000156" "g.54602946_54632693del" "" "{PMID:Martin-Merida 2017:28192796}" "" "PRPF31 del chr19:54602946-54632693, deletion of OSCAR (E1 to E2), NDUFA3, TFPT, and PRPF31 (E1 to 13)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54099655_54129402del" "" "pathogenic (dominant)" "" ## 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 NDUFA3 ## Count = 7 "{{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}}" "0000798610" "00014398" "90" "0" "0" "0" "0" "c.86-1098_*72{0}" "r.?" "p.?" "2i_4_" "0000798611" "00014398" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58His)" "4" "0000814929" "00014398" "70" "-29016" "0" "20054" "0" "c.-29016_*19799del" "r.0?" "p.0?" "" "0000905120" "00014398" "90" "-3241" "0" "25224" "0" "c.-3241_*24969del" "r.0?" "p.0?" "" "0000905121" "00014398" "90" "-3241" "0" "25224" "0" "c.-3241_*24969del" "r.0?" "p.0?" "" "0000905124" "00014398" "90" "-3241" "0" "22739" "0" "c.-3241_*22484del" "r.0?" "p.0?" "" "0000905125" "00014398" "90" "-3241" "0" "22739" "0" "c.-3241_*22484del" "r.0?" "p.0?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000384171" "0000798610" "0000384171" "0000798611" "0000387075" "0000814929" "0000427683" "0000905120" "0000427684" "0000905121" "0000427687" "0000905124" "0000427688" "0000905125"