### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OXCT1) # 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}}" "OXCT1" "3-oxoacid CoA transferase 1" "5" "p13" "unknown" "NG_011823.1" "UD_132118855494" "" "https://www.LOVD.nl/OXCT1" "" "1" "8527" "5019" "601424" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/OXCT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2019-03-09 15:09:58" "00006" "2024-06-18 16:11:49" ## 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}}" "00015536" "OXCT1" "3-oxoacid CoA transferase 1" "001" "NM_000436.3" "" "NP_000427.1" "" "" "" "-331" "3227" "1563" "41870791" "41730167" "" "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" "01881" "SCOTD" "succinyl-CoA acetoacetate transferase deficiency (SCOTD)" "" "245050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-03-09 15:41:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "OXCT1" "01881" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00080959" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00226587" "" "" "" "1" "" "02992" "" "" "M" "no" "United States" "" "0" "" "" "Mexico" "" "00293875" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00451603" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-060" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00080959" "01881" "00226587" "01881" "00293875" "00198" "00451603" "01881" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01881 ## 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}}" "0000060528" "01881" "00080959" "01758" "Familial, autosomal recessive" "" "Succinyl CoA:3-oxoacid CoA transferase deficiency (OMIM:245050)" "" "" "" "" "" "" "" "" "" "" "" "0000171699" "01881" "00226587" "02992" "Familial, autosomal recessive" "" "" "7m" "" "" "" "" "" "" "" "SCOTD" "" "" "0000340279" "01881" "00451603" "04221" "Familial, autosomal recessive" "" "Attention deficit hyperactivity disorder, mild intellectual disability, seizures" "" "02y" "" "" "" "" "" "" "Succinyl CoA:3-oxoacid CoA transferase deficiency" "Succinyl CoA:3-oxoacid CoA transferase deficiency" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081071" "00080959" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000227675" "00226587" "1" "02992" "00006" "2012-08-09 13:00:05" "00006" "2012-08-31 13:04:40" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000295043" "00293875" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000453205" "00451603" "1" "04221" "04221" "2024-06-13 00:17:42" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000081071" "OXCT1" "0000227675" "OXCT1" "0000453205" "OXCT1" ## 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 = 13 "{{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}}" "0000130157" "3" "90" "5" "41749646" "41749646" "subst" "0" "01758" "OXCT1_000003" "g.41749646G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.41749544G>A" "" "pathogenic" "ACMG" "0000296712" "0" "30" "5" "41794869" "41794870" "del" "0" "02325" "OXCT1_000002" "g.41794869_41794870del" "" "" "" "OXCT1(NM_000436.4):c.1100-6_1100-5delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41794767_41794768del" "" "likely benign" "" "0000467911" "3" "90" "5" "41794100" "41794100" "subst" "0" "02992" "OXCT1_000001" "g.41794100C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41793998C>T" "" "pathogenic" "" "0000525759" "0" "50" "5" "41794160" "41794160" "subst" "0" "01943" "OXCT1_000004" "g.41794160A>G" "" "" "" "OXCT1(NM_000436.3):c.1193T>C (p.M398T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41794058A>G" "" "VUS" "" "0000525760" "0" "30" "5" "41807543" "41807543" "subst" "0.00313104" "01943" "OXCT1_000005" "g.41807543A>G" "" "" "" "OXCT1(NM_000436.3):c.733-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41807441A>G" "" "likely benign" "" "0000525761" "0" "30" "5" "41850128" "41850128" "subst" "0.000622098" "01804" "OXCT1_000006" "g.41850128T>C" "" "" "" "OXCT1(NM_000436.3):c.564+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41850026T>C" "" "likely benign" "" "0000525762" "0" "50" "5" "41862789" "41862789" "subst" "0" "01804" "OXCT1_000007" "g.41862789C>T" "" "" "" "OXCT1(NM_000436.3):c.142G>A (p.(Glu48Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41862687C>T" "" "VUS" "" "0000525763" "0" "30" "5" "41862819" "41862819" "subst" "0.00494868" "01804" "OXCT1_000008" "g.41862819G>A" "" "" "" "OXCT1(NM_000436.3):c.112C>T (p.R38C, p.(Arg38Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41862717G>A" "" "likely benign" "" "0000609733" "0" "50" "5" "41794160" "41794160" "subst" "0" "02327" "OXCT1_000004" "g.41794160A>G" "" "" "" "OXCT1(NM_000436.3):c.1193T>C (p.M398T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41794058A>G" "" "VUS" "" "0000651732" "1" "10" "5" "41862758" "41862758" "subst" "0.00128778" "03575" "OXCT1_000009" "g.41862758G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs75134564}" "Germline" "" "rs75134564" "0" "" "" "g.41862656G>A" "" "benign" "" "0000802118" "0" "30" "5" "41870445" "41870445" "subst" "8.1644E-6" "01943" "OXCT1_000010" "g.41870445G>A" "" "" "" "OXCT1(NM_000436.3):c.16C>T (p.L6F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859945" "0" "30" "5" "41862819" "41862819" "subst" "0.00494868" "01943" "OXCT1_000008" "g.41862819G>A" "" "" "" "OXCT1(NM_000436.3):c.112C>T (p.R38C, p.(Arg38Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987728" "3" "90" "5" "41794110" "41794110" "del" "4.06098E-6" "04221" "OXCT1_000013" "g.41794110del" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020). This variant ffects the ultraconserved C-terminal domain (300-508aa). In silico analysis by MutPred-LOF (http://mutpred2.mutdb.org/mutpredlof/) predicts this variant as deleterious: 0.63016 (>0.5 = deleterious)." "Germline" "yes" "rs1469148923" "0" "" "" "g.41794008del" "" "pathogenic (recessive)" "ACMG" ## 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 OXCT1 ## Count = 13 "{{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}}" "0000130157" "00015536" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Cys)" "" "0000296712" "00015536" "30" "1100" "-6" "1100" "-5" "c.1100-6_1100-5del" "r.spl?" "p.?" "" "0000467911" "00015536" "90" "1248" "5" "1248" "5" "c.1248+5G>A" "r.1100_1248del" "p.Lys368Glufs*34" "13i" "0000525759" "00015536" "50" "1193" "0" "1193" "0" "c.1193T>C" "r.(?)" "p.(Met398Thr)" "" "0000525760" "00015536" "30" "733" "-3" "733" "-3" "c.733-3T>C" "r.spl?" "p.?" "" "0000525761" "00015536" "30" "564" "4" "564" "4" "c.564+4A>G" "r.spl?" "p.?" "" "0000525762" "00015536" "50" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Glu48Lys)" "" "0000525763" "00015536" "30" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0000609733" "00015536" "50" "1193" "0" "1193" "0" "c.1193T>C" "r.(?)" "p.(Met398Thr)" "" "0000651732" "00015536" "10" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Thr58Met)" "" "0000802118" "00015536" "30" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Leu6Phe)" "" "0000859945" "00015536" "30" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0000987728" "00015536" "90" "1243" "0" "1243" "0" "c.1243del" "r.(?)" "p.(Ile415Tyrfs*6)" "13" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000081071" "0000130157" "0000227675" "0000467911" "0000295043" "0000651732" "0000453205" "0000987728"