### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NFS1) # 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}}" "NFS1" "NFS1 nitrogen fixation 1 homolog (S. cerevisiae)" "20" "q11.22" "unknown" "NC_000020.10" "UD_132463395769" "" "https://www.LOVD.nl/NFS1" "" "1" "15910" "9054" "603485" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/NFS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-09-18 12:10:46" "00000" "2024-04-19 20:27:30" ## 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}}" "00014530" "NFS1" "transcript variant 1" "002" "NM_021100.4" "" "NP_066923.3" "" "" "" "-77" "2308" "1374" "34287287" "34256610" "" "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}}" "05316" "COXPD" "combined oxidative phosphorylation deficiency" "" "" "" "" "" "00006" "2017-08-11 14:15:49" "" "" "07024" "COXPD52" "combined oxidative phosphorylation deficiency, type 52" "AR" "619386" "" "" "" "00006" "2023-09-18 12:10:28" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NFS1" "05316" "NFS1" "07024" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00436426" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "270871" "00436499" "" "" "" "3" "" "00006" "{PMID:Farhan 2014:24498631}" "4-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives" "F" "yes" "Canada" "00y07m" "0" "" "" "Old Order Mennonite" "FamPatIV1" "00436500" "" "" "00436499" "1" "" "00006" "{PMID:Farhan 2014:24498631}" "brother" "M" "yes" "Canada" "00y07m" "0" "" "" "" "FamPatIV2" "00436501" "" "" "00436499" "1" "" "00006" "{PMID:Farhan 2014:24498631}" "brother" "M" "yes" "Canada" "" "0" "" "" "" "FamPatIV3" "00436502" "" "" "" "3" "" "00006" "{PMID:Hershkovitsz 2021:33457206}" "2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives" "M" "yes" "Israel" "00y00m43d" "0" "" "" "Arab;Christian" "FamPatII2" "00436503" "" "" "00436502" "1" "" "00006" "{PMID:Hershkovitsz 2021:33457206}" "sister" "F" "yes" "Israel" "7m" "0" "" "" "Arab;Christian" "FamPatII4" "00436504" "" "" "00436502" "1" "" "00006" "{PMID:Hershkovitsz 2021:33457206}" "brother" "M" "yes" "Israel" "" "0" "" "" "Arab;Christian" "FamPatII5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00436426" "05316" "00436499" "05316" "00436500" "05316" "00436501" "05316" "00436502" "05316" "00436503" "05316" "00436504" "05316" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05316, 07024 ## Count = 7 "{{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}}" "0000326605" "05316" "00436426" "01164" "Unknown" "00y01m" "Intrauterine growth retardation, Lactic acidosis, Decreased circulating cortisol level, Recurrent hypoglycemia, Aplasia/Hypoplasia of the cerebellum, Abnormal septum pellucidum morphology, Cavum septum pellucidum, Thin corpus callosum, CNS hypomyelination" "" "" "" "" "" "" "" "COXPD52" "combined oxidative phosphorylation deficiency" "0000326677" "05316" "00436499" "00006" "Familial, autosomal recessive" "00y07m" "see paper; ..., 7m-deceased, no facial dysmorphology; no limb dysmorphology; lethargy, anorexia, hypotonia; respiratory failure; cardiac failure; hemorrhagic pancreatitis; no cerebral infarction; renal failure; disseminated intravascular coagulation; seizures; no mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); hypoglycemia; increased lactate; increased aspartate aminotransferase; increased amylase; increased creatine kinase; increased plasma amino acid concentration (most amino acids); urine organic acids; no amino aciduria; metabolic acidosis" "" "" "" "" "" "" "" "COXPD52" "infantile mitochondrial complex II/III deficiency" "0000326678" "05316" "00436500" "00006" "Familial, autosomal recessive" "00y07m" "see paper; ..., 7m-deceased, no facial dysmorphology; no limb dysmorphology; lethargy, anorexia, hypotonia; respiratory failure; cardiac failure; no hemorrhagic pancreatitis; 15w-cerebral infarction; renal failure; disseminated intravascular coagulation; seizures; no mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); hypoglycemia; increased lactate; increased aspartate aminotransferase; normal amylase; increased creatine kinase; increased plasma amino acid concentration; normal urine organic acids; amino aciduria; metabolic acidosis" "" "" "" "" "" "" "" "COXPD52" "infantile mitochondrial complex II/III deficiency" "0000326679" "05316" "00436501" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., no facial dysmorphology; no limb dysmorphology; lethargy, anorexia, hypotonia; no respiratory failure; no cardiac failure; no hemorrhagic pancreatitis; no cerebral infarction; no renal failure; no mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); no hypoglycemia; increased lactate; increased aspartate aminotransferase; increased creatine kinase; increased plasma amino acid concentration (small increase Alanine; urine organic acids; amino aciduria; metabolic acidosis" "" "" "" "" "" "" "" "COXPD52" "infantile mitochondrial complex II/III deficiency" "0000326680" "05316" "00436502" "00006" "Familial, autosomal recessive" "00y00m43d" "see paper; ..., 43d-deceased; lethargy, hypotonia; respiratory failure; no seizures; cardiac failure; hypertrophic cardiomyopathy; adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; disseminated intravascular coagulation; hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Alanine, Glycine; elevated urine organic acids (lactate, 3-hydroxyisovaleric, ketones, 3-methyllgutaconic, 3-methyllgutaric acids); amino aciduria" "00y00m40d" "" "" "" "" "" "" "COXPD52" "mitochondrial disorder" "0000326681" "05316" "00436503" "00006" "Familial, autosomal recessive" "00y07m" "see paper; ..., 7m-deceased; lethargy, hypotonia; respiratory failure; no seizures; cardiac failure; no hypertrophic cardiomyopathy; no adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; disseminated intravascular coagulation; hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Alanine, Glycine; elevated urine organic acids (ethylmalonic, krebs cycle metabolites); amino aciduria" "00y07m" "" "" "" "" "" "" "COXPD52" "mitochondrial disorder" "0000326682" "05316" "00436504" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., lethargy, hypotonia; no respiratory failure; no cerebral infraction; no seizures; no cardiac failure; no hypertrophic cardiomyopathy; no adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; no disseminated intravascular coagulation; no hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Glycine; elevated urine organic acids (lactate, ethylmalonic, ketones, 3-methyllgutaconic)" "1m" "" "" "" "" "" "" "COXPD52" "mitochondrial disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000437910" "00436426" "1" "01164" "01164" "2023-09-15 17:02:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000437982" "00436499" "1" "00006" "00006" "2023-09-19 15:46:53" "" "" "SEQ-NG" "DNA" "" "WES" "0000437983" "00436500" "1" "00006" "00006" "2023-09-19 16:00:06" "" "" "SEQ-NG" "DNA" "" "WES" "0000437984" "00436501" "1" "00006" "00006" "2023-09-19 16:04:21" "" "" "SEQ-NG" "DNA" "" "WES" "0000437985" "00436502" "1" "00006" "00006" "2023-09-19 16:20:53" "" "" "SEQ-NG" "DNA" "" "WES" "0000437986" "00436503" "1" "00006" "00006" "2023-09-19 16:27:50" "" "" "SEQ-NG" "DNA" "" "WES" "0000437987" "00436504" "1" "00006" "00006" "2023-09-19 16:31:36" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000437910" "NFS1" ## 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 = 8 "{{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}}" "0000933364" "21" "50" "20" "34285715" "34285715" "subst" "4.90769E-5" "01164" "NFS1_000002" "g.34285715C>T" "" "PMID: 24498631, 33457206" "" "" "ACMG: PP3_MOD, PS3_SUP, PM2_SUP, PM3_SUP" "Germline" "-" "" "" "" "" "g.35697793C>T" "VCV001171019.5" "VUS (!)" "ACMG" "0000933365" "11" "50" "20" "34287209" "34287209" "del" "0" "01164" "NFS1_000003" "g.34287209del" "" "" "" "" "start lost, gene not yet curated as haploinsufficient, pathomechansim not clear" "Germline" "-" "" "0" "" "" "g.35699287del" "" "VUS (!)" "ACMG" "0000933482" "3" "90" "20" "34285715" "34285715" "subst" "4.90769E-5" "00006" "NFS1_000002" "g.34285715C>T" "" "{PMID:Farhan 2014:24498631}" "" "215T>G (Arg72Gln)" "" "Germline" "yes" "" "0" "" "" "g.35697793C>T" "" "pathogenic (recessive)" "" "0000933483" "3" "90" "20" "34285715" "34285715" "subst" "4.90769E-5" "00006" "NFS1_000002" "g.34285715C>T" "" "{PMID:Farhan 2014:24498631}" "" "215T>G (Arg72Gln)" "" "Germline" "yes" "" "0" "" "" "g.35697793C>T" "" "pathogenic (recessive)" "" "0000933484" "3" "90" "20" "34285715" "34285715" "subst" "4.90769E-5" "00006" "NFS1_000002" "g.34285715C>T" "" "{PMID:Farhan 2014:24498631}" "" "215T>G (Arg72Gln)" "" "Germline" "yes" "" "0" "" "" "g.35697793C>T" "" "pathogenic (recessive)" "" "0000933485" "3" "90" "20" "34285715" "34285715" "subst" "4.90769E-5" "00006" "NFS1_000002" "g.34285715C>T" "" "{PMID:Hershkovitsz 2021:33457206}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35697793C>T" "" "pathogenic (recessive)" "" "0000933486" "3" "90" "20" "34285715" "34285715" "subst" "4.90769E-5" "00006" "NFS1_000002" "g.34285715C>T" "" "{PMID:Hershkovitsz 2021:33457206}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35697793C>T" "" "pathogenic (recessive)" "" "0000933487" "3" "90" "20" "34285715" "34285715" "subst" "4.90769E-5" "00006" "NFS1_000002" "g.34285715C>T" "" "{PMID:Hershkovitsz 2021:33457206}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35697793C>T" "" "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 NFS1 ## Count = 8 "{{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}}" "0000933364" "00014530" "50" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Arg72Gln)" "" "0000933365" "00014530" "50" "2" "0" "2" "0" "c.2del" "r.(?)" "p.Met1?" "" "0000933482" "00014530" "90" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Arg72Gln)" "" "0000933483" "00014530" "90" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Arg72Gln)" "" "0000933484" "00014530" "90" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Arg72Gln)" "" "0000933485" "00014530" "90" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Arg72Gln)" "" "0000933486" "00014530" "90" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Arg72Gln)" "" "0000933487" "00014530" "90" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Arg72Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000437910" "0000933364" "0000437910" "0000933365" "0000437982" "0000933482" "0000437983" "0000933483" "0000437984" "0000933484" "0000437985" "0000933485" "0000437986" "0000933486" "0000437987" "0000933487"