### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BCAT2) # 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}}" "BCAT2" "branched chain amino-acid transaminase 2, mitochondrial" "19" "" "unknown" "NG_013003.1" "UD_132084417636" "" "https://www.LOVD.nl/BCAT2" "" "1" "977" "587" "113530" "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/BCAT2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-09-21 19:54:24" "00000" "2024-10-29 21:08:56" ## 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}}" "00025322" "BCAT2" "transcript variant a" "002" "NM_001190.3" "" "NP_001181.2" "" "" "" "-56" "1543" "1179" "49314320" "49298319" "00006" "2018-09-21 19:53:14" "" "" ## 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}}" "00057" "MSUD1A" "maple syrup urine disease, type Ia" "AR" "248600" "" "" "" "00006" "2012-09-21 17:10:19" "00006" "2024-05-25 09:39:48" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "06449" "HVLI" "?Hypervalinemia or hyperleucine-isoleucinemia" "AR" "618850" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BCAT2" "06449" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00180974" "" "" "" "1" "" "02568" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00453711" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat138" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00180974" "00057" "00453711" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00057, 02554, 06449 ## Count = 2 "{{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}}" "0000143241" "00057" "00180974" "02568" "Familial, autosomal recessive" "" "(HPO:0010910) Hypervalinemia\r\n(HPO:0010911) Hyperleucinemia\r\n(HPO:0010913) Hyperisoleucinemia" "" "" "" "" "" "" "" "" "" "0000342368" "02554" "00453711" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "HVLI" "inborn error of metabolism" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181923" "00180974" "1" "02568" "02568" "2018-09-19 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000455323" "00453711" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000181923" "BCAT2" ## 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}}" "0000405688" "11" "70" "19" "49300524" "49300524" "subst" "8.14034E-6" "02568" "BCAT2_000002" "g.49300524C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48797267C>G" "" "likely pathogenic" "" "0000405689" "21" "90" "19" "49300195" "49300195" "subst" "0" "02568" "BCAT2_000001" "g.49300195C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48796938C>T" "" "pathogenic" "" "0001004971" "0" "50" "19" "49303521" "49303521" "subst" "0.000179444" "01804" "BCAT2_000003" "g.49303521C>T" "" "" "" "BCAT2(NM_001190.3):c.334G>A (p.(Asp112Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007356" "1" "70" "19" "49300524" "49300524" "subst" "8.14034E-6" "00006" "BCAT2_000002" "g.49300524C>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.48797267C>G" "" "likely pathogenic" "" "0001007425" "2" "90" "19" "49300195" "49300195" "subst" "0" "00006" "BCAT2_000001" "g.49300195C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.48796938C>T" "" "pathogenic" "" "0001015819" "0" "90" "19" "49303237" "49303237" "subst" "0" "02327" "BCAT2_000004" "g.49303237C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 BCAT2 ## 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}}" "0000405688" "00025322" "70" "762" "0" "762" "0" "c.762G>C" "r.(?)" "p.(Trp254Cys)" "" "0000405689" "00025322" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Trp308*)" "" "0001004971" "00025322" "50" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Asp112Asn)" "" "0001007356" "00025322" "70" "762" "0" "762" "0" "c.762G>C" "r.(?)" "p.(Trp254Cys)" "7" "0001007425" "00025322" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Trp308Ter)" "8" "0001015819" "00025322" "90" "531" "1" "531" "1" "c.531+1G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000181923" "0000405688" "0000181923" "0000405689" "0000455323" "0001007356" "0000455323" "0001007425"