### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NSUN3) # 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}}" "NSUN3" "NOP2/Sun domain family, member 3" "3" "q11.2" "unknown" "NC_000003.11" "UD_136089641307" "" "https://www.LOVD.nl/NSUN3" "" "1" "26208" "63899" "617491" "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/NSUN3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-04 22:03:24" "00006" "2023-09-18 22:01:01" ## 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}}" "00014844" "NSUN3" "NOP2/Sun domain family, member 3" "001" "NM_022072.3" "" "NP_071355.1" "" "" "" "-116" "1319" "1023" "93781855" "93845630" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05316" "COXPD" "combined oxidative phosphorylation deficiency" "" "" "" "" "" "00006" "2017-08-11 14:15:49" "" "" "07002" "COXPD48" "combined oxidative phosphorylation deficiency, type 48" "AR" "619012" "" "" "" "00006" "2023-02-04 22:03:02" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NSUN3" "05316" "NSUN3" "07002" ## 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}}" "00390470" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "A016105" "00431244" "" "" "" "1" "" "00006" "{PMID:Van Haute 2016:27356879}, {PMID:Yepez 2022:35379322}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "patient;R18626" "00436494" "" "" "" "1" "" "00006" "{PMID:Paramasivam 2020:32488845}" "2-generation family, 1 affected (deceased older sister), unaffected heterozygous parents" "M" "yes" "India" "" "0" "" "" "" "FamPatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00390470" "00198" "00431244" "00198" "00436494" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05316, 07002 ## Count = 3 "{{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}}" "0000284008" "00198" "00390470" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bleeding, Thrombotic and Platelet Disorders" "Bleeding, Thrombotic and Platelet Disorders" "" "0000321849" "00198" "00431244" "00006" "Familial, autosomal recessive" "00y03m" "3m-combined developmental disability, microcephaly, failure to thrive, recurrent increased lactate levels in plasma, muscular weakness, proximal accentuated, external ophthalmoplegia, convergence nystagmus, combined OXPHOS deficiency skeletal muscle" "" "" "" "" "" "" "" "" "COXPD48" "mitochondrial disease" "" "0000326672" "00198" "00436494" "00006" "Familial, autosomal recessive" "00y08m" "see paper; ..., early-onset mitochondrial encephalomyopathy; 4m-lactic acidosis, global developmental delay, hypotonia, muscle weakness, seizures" "" "" "" "" "" "" "" "" "COXPD48" "encephalomyopathy" "" ## 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}}" "0000391711" "00390470" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000432658" "00431244" "1" "00006" "00006" "2023-02-04 22:11:46" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000437978" "00436494" "1" "00006" "00006" "2023-09-18 21:57:04" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000391711" "PROS1" ## 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}}" "0000821461" "0" "70" "3" "93516594" "96012342" "del" "0" "00000" "ARL13B_000040" "g.93516594_96012342del" "" "{PMID:Turro 2020:32581362}" "" "chr3:g.93516594_96012342del" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000886016" "0" "50" "3" "93803177" "93803180" "dup" "0" "02329" "NSUN3_000001" "g.93803177_93803180dup" "" "" "" "NSUN3(NM_022072.5):c.349_352dupAATG (p.A118Efs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918208" "21" "90" "3" "93803123" "93803123" "subst" "3.24923E-5" "00006" "NSUN3_000002" "g.93803123C>T" "" "{PMID:Van Haute 2016:27356879}" "" "" "" "Germline" "" "" "0" "" "" "g.94084279C>T" "" "pathogenic (recessive)" "" "0000918209" "11" "90" "3" "93802336" "93805449" "del" "0" "00006" "NSUN3_000003" "g.93802336_93805449del" "" "{PMID:Van Haute 2016:27356879}, {PMID:Yepez 2022:35379322}" "" "" "" "Germline" "" "" "0" "" "" "g.94083492_94086605del" "" "pathogenic (recessive)" "" "0000933474" "11" "90" "3" "93803282" "93803282" "subst" "0" "00006" "NSUN3_000004" "g.93803282T>A" "" "{PMID:Paramasivam 2020:32488845}" "" "" "" "Germline" "" "" "0" "" "" "NC_000003.12:g.94084438T>A" "" "pathogenic (recessive)" "" "0000933475" "21" "90" "3" "93803249" "93803249" "subst" "0" "00006" "NSUN3_000005" "g.93803249G>C" "" "{PMID:Paramasivam 2020:32488845}" "" "" "" "Germline" "" "" "0" "" "" "g.94084405G>C" "" "pathogenic (recessive)" "" ## 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 NSUN3 ## 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}}" "0000821461" "00014844" "70" "-265377" "0" "2168031" "0" "c.-265377_*2167008del" "r.0?" "p.0?" "" "0000886016" "00014844" "50" "349" "0" "352" "0" "c.349_352dup" "r.(?)" "p.(Ala118Glufs*45)" "" "0000918208" "00014844" "90" "295" "0" "295" "0" "c.295C>T" "r.295c>u" "p.Arg99*" "" "0000918209" "00014844" "90" "123" "-615" "466" "2155" "c.123-615_466+2155del" "r.123_466del" "p.Glu42IlefsTer5" "2i_3i" "0000933474" "00014844" "90" "454" "0" "454" "0" "c.454T>A" "r.(?)" "p.(Cys152Ser)" "" "0000933475" "00014844" "90" "421" "0" "421" "0" "c.421G>C" "r.(?)" "p.(Ala141Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000391711" "0000821461" "0000432658" "0000918208" "0000432658" "0000918209" "0000437978" "0000933474" "0000437978" "0000933475"