### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HIBCH) # 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}}" "HIBCH" "3-hydroxyisobutyryl-CoA hydrolase" "2" "q32.3" "unknown" "NG_017062.1" "UD_132085409774" "" "https://www.LOVD.nl/HIBCH" "" "1" "4908" "26275" "610690" "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/HIBCH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-26 17:08:14" "00000" "2025-05-05 21:14:00" ## 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}}" "00009318" "HIBCH" "transcript variant 1" "002" "NM_014362.3" "" "NP_055177.2" "" "" "" "-295" "1644" "1161" "191184771" "191069360" "" "0000-00-00 00:00:00" "" "" ## 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" "01914" "HIBCHD" "3-hydroxyisobutryl-CoA hydrolase deficiency" "AR" "250620" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HIBCH" "01914" ## 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}}" "00151386" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00205864" "" "" "" "1" "" "03104" "" "" "F" "no" "China" "" "0" "" "" "" "patient3" "00269346" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00295543" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00151386" "00198" "00205864" "04270" "00269346" "00198" "00295543" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01914, 04270 ## 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}}" "0000123780" "00198" "00151386" "01807" "Unknown" "" "Symmetric lesions of the basal ganglia (HP:0007039); Dyskinesia (HP:0100660)" "" "" "" "" "" "" "" "" "" "" "" "0000207178" "00198" "00269346" "01164" "Unknown" "" "Severe global developmental delay (HP:0011344); Seizures (HP:0001250); Dystonia (HP:0001332)" "" "" "" "" "" "" "" "" "" "" "" "0000223108" "00198" "00295543" "01164" "Unknown" "" "Seizures (HP:0001250); Encephalopathy (HP:0001298)" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000152241" "00151386" "0" "01807" "01807" "2018-01-15 20:24:30" "" "" "SEQ" "DNA" "" "" "0000206894" "00205864" "1" "03104" "03104" "2018-11-12 11:44:49" "" "" "SEQ;SEQ-NG-I" "DNA" "Peripheral blood" "" "0000270488" "00269346" "1" "01164" "01164" "2019-11-20 18:18:30" "" "" "SEQ-NG-S" "DNA" "" "" "0000296713" "00295543" "1" "01164" "01164" "2020-03-18 10:47:26" "" "" "SEQ-NG-S" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000206894" "HIBCH" ## 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 = 18 "{{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}}" "0000245375" "3" "70" "2" "191077780" "191077780" "subst" "8.14657E-6" "01807" "HIBCH_000001" "g.191077780T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.190213054T>C" "" "likely pathogenic" "" "0000248839" "0" "10" "2" "191184475" "191184475" "subst" "0.513569" "02325" "HIBCH_000004" "g.191184475A>G" "" "" "" "HIBCH(NM_014362.4):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190319749A>G" "" "benign" "" "0000281300" "0" "10" "2" "191161622" "191161622" "subst" "0.745884" "02325" "HIBCH_000002" "g.191161622T>C" "" "" "" "HIBCH(NM_014362.4):c.136A>G (p.T46A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190296896T>C" "" "benign" "" "0000341159" "0" "50" "2" "191152340" "191152340" "subst" "0" "02327" "HIBCH_000003" "g.191152340G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190287614G>A" "" "VUS" "" "0000436538" "0" "90" "2" "191114366" "191114366" "subst" "0" "03104" "HIBCH_000005" "g.191114366C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.190249640C>T" "" "pathogenic" "" "0000436539" "0" "90" "2" "191161645" "191161645" "subst" "0" "03104" "HIBCH_000006" "g.191161645A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.190296919A>C" "" "pathogenic" "" "0000513757" "0" "30" "2" "191064716" "191064716" "subst" "0" "01804" "C2orf88_000001" "g.191064716G>T" "" "" "" "C2orf88(NM_001042519.1):c.130G>T (p.(Val44Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190199990G>T" "" "likely benign" "" "0000513758" "0" "30" "2" "191184467" "191184467" "subst" "0.000226419" "01804" "HIBCH_000007" "g.191184467G>A" "" "" "" "HIBCH(NM_014362.3):c.10C>T (p.(Arg4Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190319741G>A" "" "likely benign" "" "0000604250" "3" "70" "2" "191125947" "191125947" "subst" "0" "01164" "HIBCH_000008" "g.191125947G>A" "" "" "" "" "ACMG: PM1,PM2,PP1,PP3; parents consanguenous, patient with normal development till age 6y" "Germline" "" "" "0" "" "" "g.190261221G>A" "" "likely pathogenic" "ACMG" "0000607352" "0" "90" "2" "191109651" "191109651" "subst" "8.12889E-6" "01943" "HIBCH_000009" "g.191109651G>A" "" "" "" "HIBCH(NM_014362.3):c.853C>T (p.Q285*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190244925G>A" "" "pathogenic" "" "0000620908" "0" "50" "2" "191110938" "191110938" "subst" "0" "01943" "HIBCH_000010" "g.191110938A>G" "" "" "" "HIBCH(NM_014362.3):c.751T>C (p.S251P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190246212A>G" "" "VUS" "" "0000653409" "0" "70" "2" "191114391" "191114392" "del" "0" "01164" "HIBCH_000011" "g.191114391_191114392del" "" "" "" "" "no second variant detected in HIBCH" "Germline" "" "" "0" "" "" "g.190249665_190249666del" "" "likely pathogenic" "ACMG" "0000718354" "0" "30" "2" "191125934" "191125934" "subst" "4.0659E-6" "01943" "HIBCH_000012" "g.191125934T>C" "" "" "" "HIBCH(NM_014362.3):c.465A>G (p.Q155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718355" "0" "30" "2" "191161686" "191161686" "subst" "0.000223674" "01943" "HIBCH_000013" "g.191161686A>G" "" "" "" "HIBCH(NM_014362.3):c.79-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884651" "0" "10" "2" "191161622" "191161622" "subst" "0.745884" "02327" "HIBCH_000002" "g.191161622T>C" "" "" "" "HIBCH(NM_014362.4):c.136A>G (p.T46A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000884652" "0" "10" "2" "191184475" "191184475" "subst" "0.513569" "02327" "HIBCH_000004" "g.191184475A>G" "" "" "" "HIBCH(NM_014362.4):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032868" "0" "50" "2" "191110928" "191110928" "subst" "4.91039E-5" "01804" "HIBCH_000014" "g.191110928T>A" "" "" "" "HIBCH(NM_014362.4):c.761A>T (p.(Asp254Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032869" "0" "50" "2" "191155212" "191155212" "subst" "0" "01804" "HIBCH_000015" "g.191155212C>G" "" "" "" "HIBCH(NM_014362.4):c.305-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 HIBCH ## Count = 18 "{{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}}" "0000245375" "00009318" "70" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Thr305Ala)" "" "0000248839" "00009318" "10" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000281300" "00009318" "10" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Thr46Ala)" "" "0000341159" "00009318" "50" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Ala137Val)" "" "0000436538" "00009318" "90" "750" "0" "750" "0" "c.750G>A" "r.(=)" "p.(=)" "" "0000436539" "00009318" "90" "113" "0" "113" "0" "c.113T>G" "r.(?)" "p.(Val38Gly)" "" "0000513757" "00009318" "30" "6288" "0" "6288" "0" "c.*5127C>A" "r.(=)" "p.(=)" "" "0000513758" "00009318" "30" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Arg4Cys)" "" "0000604250" "00009318" "70" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Ser151Leu)" "" "0000607352" "00009318" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Gln285Ter)" "" "0000620908" "00009318" "50" "751" "0" "751" "0" "c.751T>C" "r.(?)" "p.(Ser251Pro)" "" "0000653409" "00009318" "70" "725" "0" "726" "0" "c.725_726del" "r.(?)" "p.(Ser242Cysfs*10)" "" "0000718354" "00009318" "30" "465" "0" "465" "0" "c.465A>G" "r.(?)" "p.(Gln155=)" "" "0000718355" "00009318" "30" "79" "-7" "79" "-7" "c.79-7T>C" "r.(=)" "p.(=)" "" "0000884651" "00009318" "10" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Thr46Ala)" "" "0000884652" "00009318" "10" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0001032868" "00009318" "50" "761" "0" "761" "0" "c.761A>T" "r.(?)" "p.(Asp254Val)" "" "0001032869" "00009318" "50" "305" "-1" "305" "-1" "c.305-1G>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000152241" "0000245375" "0000206894" "0000436538" "0000206894" "0000436539" "0000270488" "0000604250" "0000296713" "0000653409"