### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BCKDHB) # 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}}" "BCKDHB" "branched chain keto acid dehydrogenase E1 subunit beta" "6" "q14.1" "unknown" "NG_009775.2" "UD_144409905275" "" "" "" "1" "987" "594" "248611" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-06 09:39:40" "" "" "00006" "2021-09-08 15:10:24" ## 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}}" "00000053" "BCKDHB" "transcript variant 1" "002" "NM_183050.3" "" "NP_898871.1" "" "" "" "-84" "3645" "1179" "80106610" "80346270" "00001" "2020-12-06 09:40:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00034" "MSUD" "maple syrup urine disease" "" "" "" "" "" "00001" "2020-12-03 15:31:35" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BCKDHB" "00034" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000219" "" "" "" "1" "" "00002" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}" "" "" "Malaysia" "Malay" "" "F" "00000220" "" "" "" "1" "" "00002" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}" "" "" "Malaysia" "Malay" "" "M" "00000221" "" "" "" "1" "" "00002" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}" "" "" "Malaysia" "Chinese" "" "F" "00000222" "" "" "" "1" "" "00002" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}" "" "" "Malaysia" "Chinese" "" "M" "00000223" "" "" "" "1" "" "00002" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}" "" "" "Malaysia" "Malay" "" "F" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000219" "00034" "00000220" "00034" "00000221" "00034" "00000222" "00034" "00000223" "00034" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00034 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000105" "00034" "00000219" "00002" "" "Familial, autosomal recessive" "0000000106" "00034" "00000220" "00002" "" "Familial, autosomal recessive" "0000000107" "00034" "00000221" "00002" "" "Familial, autosomal recessive" "0000000108" "00034" "00000222" "00002" "" "Familial, autosomal recessive" "0000000109" "00034" "00000223" "00002" "" "Familial, autosomal recessive" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000234" "00000219" "1" "00002" "00002" "2020-12-06 09:57:00" "" "" "PCR;SEQ" "DNA" "0000000235" "00000220" "1" "00002" "00002" "2020-12-06 10:44:55" "" "" "PCR;SEQ" "DNA" "0000000236" "00000221" "1" "00002" "00002" "2020-12-06 11:04:47" "" "" "PCR;SEQ" "DNA" "0000000237" "00000222" "1" "00002" "00002" "2020-12-06 11:17:37" "00002" "2020-12-06 11:58:01" "PCR;SEQ" "DNA" "0000000238" "00000223" "1" "00002" "00002" "2020-12-06 11:37:32" "00002" "2020-12-06 11:50:14" "PCR;SEQ" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000000234" "BCKDHB" "0000000235" "BCKDHB" "0000000236" "BCKDHB" "0000000237" "BCKDHB" "0000000238" "DBT" ## 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 = 16 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001104" "3" "90" "6" "80273199" "80273199" "subst" "0" "00002" "BCKDHB_000001" "g.80273199C>T" "1/9" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs398124561}, {ClinVar:96563}" "S339L" "" "rs398124561" "0000001105" "0" "50" "6" "80106889" "80106889" "subst" "0" "00002" "BCKDHB_000002" "g.80106889G>T" "1/9" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs1328608014}, {ClinVar:664073}" "G66W" "" "rs1328608014" "0000001106" "3" "90" "6" "80129217" "80129217" "subst" "0" "00002" "BCKDHB_000003" "g.80129217C>T" "1/9" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {ClinVar:928847}" "R111*" "" "" "0000001107" "0" "90" "6" "80343719" "80343719" "subst" "0" "00002" "BCKDHB_000004" "g.80343719C>G" "1/9" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}" "T365R" "" "rs1242184469" "0000001108" "0" "00" "6" "80343784" "80343784" "subst" "0" "00002" "BCKDHB_000005" "g.80343784C>T" "1/9" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs751599203}, {ClinVar:555909}" "R387*" "" "rs751599203" "0000001109" "0" "90" "6" "80200972" "80200972" "subst" "0" "00002" "BCKDHB_000006" "g.80200972T>C" "1/9" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs121918636} ,{ClinVar:12848}" "S261P" "" "rs121918636" "0000001110" "0" "00" "6" "80200993" "80200993" "subst" "0" "00002" "BCKDHB_000007" "g.80200993G>T" "1/9" "{PMID:Ernie Zuraida Ali et al. (2018):30228974} ,{dbSNP:rs78340021} ,{ClinVar:156324}" "E268*" "" "rs78340021" "0000001111" "0" "90" "6" "80273199" "80273199" "subst" "0" "00002" "BCKDHB_000001" "g.80273199C>T" "1/9" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs398124561}, {ClinVar:96563}" "S339L" "" "rs398124561" "0000001112" "0" "50" "6" "80127613" "80127613" "subst" "0" "00002" "BCKDHB_000008" "g.80127613A>G" "1/6" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs1554097571}, {ClinVar: 457410}" "D88G" "" "rs1554097571" "0000001113" "0" "90" "6" "80273199" "80273199" "subst" "0" "00002" "BCKDHB_000001" "g.80273199C>T" "1/6" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs398124561}, {ClinVar:96563}" "S339L" "" "rs398124561" "0000001114" "3" "90" "6" "80129217" "80129217" "subst" "0" "00002" "BCKDHB_000003" "g.80129217C>T" "2/6" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {ClinVar:928847}" "R111*" "" "" "0000001115" "0" "50" "6" "80201009" "80201009" "subst" "0" "00002" "BCKDHB_000009" "g.80201009C>T" "1/3" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs1554563912}, {ClinVar: 530764}" "T273I" "" "rs1554563912" "0000001116" "0" "00" "6" "80343784" "80343784" "subst" "0" "00002" "BCKDHB_000005" "g.80343784C>T" "1/2" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs751599203}, {ClinVar:555909}" "R387*" "" "rs751599203" "0000001117" "0" "90" "6" "80129187" "80129187" "subst" "0" "00002" "BCKDHB_000011" "g.80129187G>A" "1" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {ClinVar:834271}" "G101S" "" "" "0000001118" "0" "90" "6" "80168978" "80168978" "subst" "0" "00002" "BCKDHB_000010" "g.80168978T>G" "1/3" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs1057519998}, {ClinVar:376633}" "L194R" "" "rs1057519998" "0000001119" "0" "90" "6" "80343691" "80343692" "ins" "0" "00002" "BCKDHB_000012" "g.80343691_80343692insT" "1/5" "{PMID:Ernie Zuraida Ali et al. (2018):30228974}" "V356Cfs*3" "" "" ## 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 BCKDHB ## Count = 16 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001104" "00000053" "90" "1016" "0" "1016" "0" "c.1016C>T" "9" "p.(Ser339Leu)" "r.(?)" "" "" "{ClinVar:96563}" "0000001105" "00000053" "50" "196" "0" "196" "0" "c.196G>T" "1" "p.(Gly66Trp)" "r.(?)" "" "" "{ClinVar:664073}" "0000001106" "00000053" "90" "331" "0" "331" "0" "c.331C>T" "3" "p.(Arg111*)" "r.(?)" "" "" "{ClinVar: 928847}" "0000001107" "00000053" "90" "1094" "0" "1094" "0" "c.1094C>G" "10" "p.(Thr365Arg)" "r.(?)" "" "" "" "0000001108" "00000053" "00" "1159" "0" "1159" "0" "c.1159C>T" "10" "p.(Arg387*)" "r.(?)" "" "" "{ClinVar:555909}" "0000001109" "00000053" "90" "781" "0" "781" "0" "c.781T>C" "7" "p.(Ser261Pro)" "r.(?)" "" "" "{ClinVar:12848}" "0000001110" "00000053" "00" "802" "0" "802" "0" "c.802G>T" "7" "p.(Glu268*)" "r.(?)" "" "" "{ClinVar:156324}" "0000001111" "00000053" "90" "1016" "0" "1016" "0" "c.1016C>T" "9" "p.(Ser339Leu)" "r.(?)" "" "" "{ClinVar:96563}" "0000001112" "00000053" "50" "263" "0" "263" "0" "c.263A>G" "2" "p.(Asp88Gly)" "r.(?)" "" "" "{ClinVar: 457410}" "0000001113" "00000053" "90" "1016" "0" "1016" "0" "c.1016C>T" "9" "p.(Ser339Leu)" "r.(?)" "" "" "{ClinVar:96563}" "0000001114" "00000053" "90" "331" "0" "331" "0" "c.331C>T" "3" "p.(Arg111*)" "r.(?)" "" "" "{ClinVar: 928847}" "0000001115" "00000053" "50" "818" "0" "818" "0" "c.818C>T" "7" "p.(Thr273Ile)" "r.(?)" "" "" "{ClinVar: 530764}" "0000001116" "00000053" "00" "1159" "0" "1159" "0" "c.1159C>T" "10" "p.(Arg387*)" "r.(?)" "" "" "{ClinVar: 555909}" "0000001117" "00000053" "90" "301" "0" "301" "0" "c.301G>A" "3" "p.(Gly101Ser)" "r.(?)" "" "" "" "0000001118" "00000053" "90" "581" "0" "581" "0" "c.581T>G" "5" "p.(Leu194Arg)" "r.(?)" "" "" "{ClinVar:376633}" "0000001119" "00000053" "90" "1066" "0" "1067" "0" "c.1066_1067insT" "9" "p.(Pro356Leufs*9)" "r.(?)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000000234" "0000001104" "0000000234" "0000001105" "0000000234" "0000001106" "0000000234" "0000001107" "0000000234" "0000001108" "0000000234" "0000001109" "0000000234" "0000001110" "0000000234" "0000001111" "0000000235" "0000001112" "0000000235" "0000001113" "0000000235" "0000001114" "0000000236" "0000001115" "0000000236" "0000001116" "0000000236" "0000001118" "0000000237" "0000001117" "0000000238" "0000001119"