### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFAF7) # 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}}" "NDUFAF7" "NADH:ubiquinone oxidoreductase complex assembly factor 7" "2" "p22.2" "unknown" "NG_053078.1" "UD_145629878387" "" "https://www.LOVD.nl/NDUFAF7" "" "1" "28816" "55471" "615898" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2020-04-24 14:40:33" "00006" "2024-01-23 18:13:56" ## 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}}" "00024910" "NDUFAF7" "NADH dehydrogenase (ubiquinone) complex I, assembly factor 7, transcript variant 1" "001" "NM_144736.4" "" "NP_653337.1" "" "" "" "-75" "2136" "1326" "37458774" "37476303" "00000" "2017-08-08 16:27:24" "" "" ## 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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "05323" "MYP" "myopia (MYP)" "" "" "" "" "" "00006" "2017-09-01 15:07:55" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NDUFAF7" "00244" ## 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}}" "00292730" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292731" "" "" "" "75" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300240" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32215939}" "" "F" "" "China" "" "0" "" "" "" "HM448" "00300243" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32215939}" "" "M" "" "Spain" "" "0" "" "" "" "HM528" "00300246" "" "" "" "3" "" "00006" "{PMID:Wang 2017:28837730}" "3-generation family, 3 affected (3F)" "F" "" "China" "" "0" "" "" "" "Fam" "00304821" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00292730" "00198" "00292731" "00198" "00300240" "05323" "00300243" "05323" "00300246" "00244" "00304821" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 05323 ## 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}}" "0000227542" "05323" "00300240" "00006" "Familial, autosomal dominant" "63y" "refraction spherical equivalent OD –11.50, OS –12.00" "6y" "" "" "" "" "" "" "" "" "myopia" "" "0000227545" "05323" "00300243" "00006" "Familial, autosomal dominant" "69y" "refraction spherical equivalent OD –17.00, OS –17.50" "5y" "" "" "" "" "" "" "" "" "myopia" "" "0000227548" "00244" "00300246" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "myopia" "" ## 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}}" "0000293898" "00292730" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293899" "00292731" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301357" "00300240" "1" "00006" "00006" "2020-04-24 14:46:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301360" "00300243" "1" "00006" "00006" "2020-04-24 14:46:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301364" "00300246" "1" "00006" "00006" "2020-04-24 14:53:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000305950" "00304821" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000301357" "NDUFAF7" "0000301360" "NDUFAF7" "0000301364" "NDUFAF7" ## 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 = 14 "{{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}}" "0000302957" "0" "50" "2" "37473268" "37473268" "subst" "0.000109731" "01943" "NDUFAF7_000002" "g.37473268T>C" "" "" "" "NDUFAF7(NM_144736.4):c.866T>C (p.I289T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37246125T>C" "" "VUS" "" "0000326936" "0" "50" "2" "37454907" "37454907" "subst" "0" "01804" "CEBPZ_000001" "g.37454907C>G" "" "" "" "CEBPZ(NM_005760.2):c.1429G>C (p.(Asp477His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37227764C>G" "" "VUS" "" "0000326937" "0" "50" "2" "37455566" "37455566" "subst" "0.000475281" "01804" "CEBPZ_000002" "g.37455566T>C" "" "" "" "CEBPZ(NM_005760.2):c.770A>G (p.(Asp257Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37228423T>C" "" "VUS" "" "0000326938" "0" "50" "2" "37459360" "37459360" "subst" "0" "01804" "NDUFAF7_000001" "g.37459360C>T" "" "" "" "NDUFAF7(NM_001083946.1):c.167C>T (p.(Pro56Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37232217C>T" "" "VUS" "" "0000346479" "0" "10" "2" "37454981" "37454981" "subst" "0.00274569" "02327" "CEBPZ_000004" "g.37454981T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37227838T>C" "" "benign" "" "0000515770" "0" "30" "2" "37469848" "37469849" "del" "0" "01804" "NDUFAF7_000003" "g.37469848_37469849del" "" "" "" "NDUFAF7(NM_144736.4):c.681+8_681+9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37242705_37242706del" "" "likely benign" "" "0000650587" "1" "10" "2" "37458898" "37458898" "subst" "0.00749091" "03575" "NDUFAF7_000004" "g.37458898G>A" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs72875762}" "Germline" "" "rs72875762" "0" "" "" "g.37231755G>A" "" "benign" "" "0000650588" "1" "10" "2" "37468837" "37468837" "subst" "0.0142692" "03575" "NDUFAF7_000005" "g.37468837G>A" "75/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "75 heterozygous; {DB:CLININrs17409514}" "Germline" "" "rs17409514" "0" "" "" "g.37241694G>A" "" "benign" "" "0000664276" "1" "90" "2" "37474657" "37474657" "subst" "0" "00006" "NDUFAF7_000008" "g.37474657C>A" "" "{PMID:Liu 2020:32215939}" "" "" "" "Germline" "" "" "0" "" "" "g.37247514C>A" "" "pathogenic (dominant)" "" "0000664279" "1" "70" "2" "37474622" "37474622" "subst" "1.2188E-5" "00006" "NDUFAF7_000007" "g.37474622T>A" "" "{PMID:Liu 2020:32215939}" "" "" "" "Germline" "" "" "0" "" "" "g.37247479T>A" "" "pathogenic (dominant)" "" "0000664283" "21" "90" "2" "37473200" "37473200" "subst" "0" "00006" "NDUFAF7_000006" "g.37473200C>G" "" "{PMID:Wang 2017:28837730}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37246057C>G" "" "pathogenic (dominant)" "" "0000669638" "3" "10" "2" "37468837" "37468837" "subst" "0.0142692" "03575" "NDUFAF7_000005" "g.37468837G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs17409514}" "Germline" "" "rs17409514" "0" "" "" "g.37241694G>A" "" "benign" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000923690" "0" "30" "2" "37475273" "37475273" "subst" "0.00219365" "02325" "PRKD3_000004" "g.37475273T>C" "" "" "" "NDUFAF7(NM_144736.5):c.1111-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 NDUFAF7 ## Count = 14 "{{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}}" "0000302957" "00024910" "50" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Ile289Thr)" "" "0000326936" "00024910" "50" "-3942" "0" "-3942" "0" "c.-3942C>G" "r.(?)" "p.(=)" "" "0000326937" "00024910" "50" "-3283" "0" "-3283" "0" "c.-3283T>C" "r.(?)" "p.(=)" "" "0000326938" "00024910" "50" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Pro56Leu)" "" "0000346479" "00024910" "10" "-3868" "0" "-3868" "0" "c.-3868T>C" "r.(?)" "p.(=)" "" "0000515770" "00024910" "30" "681" "12" "681" "13" "c.681+12_681+13del" "r.(=)" "p.(=)" "" "0000650587" "00024910" "10" "50" "0" "50" "0" "c.50G>A" "r.(?)" "p.(Arg17His)" "" "0000650588" "00024910" "10" "525" "0" "525" "0" "c.525G>A" "r.(=)" "p.(=)" "" "0000664276" "00024910" "90" "995" "0" "995" "0" "c.995C>A" "r.(?)" "p.(Thr332Lys)" "" "0000664279" "00024910" "70" "960" "0" "960" "0" "c.960T>A" "r.(?)" "p.(His320Gln)" "" "0000664283" "00024910" "90" "798" "0" "798" "0" "c.798C>G" "r.(?)" "p.(Asp266Glu)" "" "0000669638" "00024910" "10" "525" "0" "525" "0" "c.525G>A" "r.(=)" "p.(=)" "" "0000829418" "00024910" "50" "-8388608" "0" "8388607" "0" "c.-9858441_*24605688dup" "r.0?" "p.0?" "" "0000923690" "00024910" "30" "1111" "-5" "1111" "-5" "c.1111-5T>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000293898" "0000650587" "0000293899" "0000650588" "0000301357" "0000664276" "0000301360" "0000664279" "0000301364" "0000664283" "0000305950" "0000669638"