### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MICAL1) # 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}}" "MICAL1" "microtubule associated monoxygenase, calponin and LIM domain containing 1" "6" "q21" "unknown" "NG_042833.1" "UD_132610685283" "" "https://www.LOVD.nl/MIVAL1" "" "1" "20619" "64780" "607129" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MICAL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-02-17 16:08:54" "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}}" "00012109" "MICAL1" "transcript variant 1" "002" "NM_022765.3" "" "NP_073602.3" "" "" "" "-312" "3333" "3204" "109777190" "109765265" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00622" "ICF2" "immunodeficiency-centromeric instability-facial anomalies syndrome, type 2 (ICF-2)" "AR" "614069" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00100259" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "IVIG" "" "Rf1875-2.2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00100259" "00622" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00622 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Infections/Recurrent}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000078581" "00622" "00100259" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100662" "00100259" "1" "01553" "01553" "2017-02-09 12:10:48" "" "" "arrayCNV" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 17 "{{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}}" "0000162970" "3" "90" "6" "109740389" "110012705" "" "0" "01553" "ZBTB24_000023" "g.(109724312_109740389)_(110012705_110036280)del" "" "{PMID:van den Boogaard 2017:28128455}" "" "g.109734377_110024284del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000256100" "0" "50" "6" "109787460" "109787460" "subst" "0.000789947" "01943" "ZBTB24_000014" "g.109787460A>G" "" "" "" "ZBTB24(NM_014797.2):c.1688T>C (p.I563T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109466257A>G" "" "VUS" "" "0000320104" "0" "30" "6" "109787476" "109787476" "subst" "0.00260671" "01943" "ZBTB24_000015" "g.109787476C>T" "" "" "" "ZBTB24(NM_014797.2):c.1672G>A (p.D558N, p.(Asp558Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109466273C>T" "" "likely benign" "" "0000331157" "0" "50" "6" "109766147" "109766147" "subst" "0" "01804" "MICAL1_000001" "g.109766147A>G" "" "" "" "MICAL1(NM_001159291.1):c.2675T>C (p.(Val892Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109444944A>G" "" "VUS" "" "0000331158" "0" "50" "6" "109771215" "109771215" "subst" "0.00021127" "01804" "MICAL1_000002" "g.109771215C>T" "" "" "" "MICAL1(NM_001159291.1):c.1007G>A (p.(Arg336Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109450012C>T" "" "VUS" "" "0000331160" "0" "30" "6" "109787476" "109787476" "subst" "0.00260671" "01804" "ZBTB24_000015" "g.109787476C>T" "" "" "" "ZBTB24(NM_014797.2):c.1672G>A (p.D558N, p.(Asp558Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109466273C>T" "" "likely benign" "" "0000526637" "0" "50" "6" "109787446" "109787446" "subst" "0.000215812" "01943" "MICAL1_000004" "g.109787446C>T" "" "" "" "ZBTB24(NM_014797.2):c.1702G>A (p.G568S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109466243C>T" "" "VUS" "" "0000526639" "0" "50" "6" "109787647" "109787647" "subst" "8.12295E-6" "01943" "MICAL1_000005" "g.109787647G>A" "" "" "" "ZBTB24(NM_014797.2):c.1501C>T (p.R501C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109466444G>A" "" "VUS" "" "0000609900" "0" "30" "6" "109787070" "109787070" "subst" "0.000146188" "01943" "MICAL1_000008" "g.109787070C>T" "" "" "" "ZBTB24(NM_014797.2):c.2078G>A (p.G693D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109465867C>T" "" "likely benign" "" "0000609901" "0" "50" "6" "109787772" "109787772" "subst" "2.46518E-5" "01943" "MICAL1_000007" "g.109787772T>C" "" "" "" "ZBTB24(NM_014797.2):c.1376A>G (p.E459G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109466569T>C" "" "VUS" "" "0000677587" "0" "50" "6" "109787613" "109787613" "subst" "0" "01943" "MICAL1_000009" "g.109787613T>C" "" "" "" "ZBTB24(NM_014797.2):c.1535A>G (p.H512R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677588" "0" "30" "6" "109788960" "109788965" "del" "0" "02326" "MICAL1_000010" "g.109788960_109788965del" "" "" "" "ZBTB24(NM_014797.2):c.1289-11_1289-6delGTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976920" "0" "30" "6" "109774960" "109774960" "subst" "0.00148404" "01804" "MICAL1_000012" "g.109774960C>T" "" "" "" "MICAL1(NM_022765.4):c.347G>A (p.(Arg116His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995242" "0" "30" "6" "109763831" "109763831" "subst" "0.00250554" "01804" "MICAL1_000013" "g.109763831G>C" "" "" "" "SMPD2(NM_003080.2):c.491+3G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995243" "0" "30" "6" "109765437" "109765437" "subst" "5.2858E-5" "01804" "MICAL1_000014" "g.109765437C>T" "" "" "" "MICAL1(NM_022765.3):c.3161G>A (p.(Arg1054His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035401" "0" "50" "6" "109763466" "109763469" "del" "0" "01804" "MICAL1_000015" "g.109763466_109763469del" "" "" "" "SMPD2(NM_003080.3):c.372_375del (p.(His124Glnfs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035402" "0" "30" "6" "109764622" "109764622" "subst" "0.000170919" "01804" "MICAL1_000016" "g.109764622C>T" "" "" "" "SMPD2(NM_003080.3):c.882C>T (p.(His294=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 MICAL1 ## Count = 17 "{{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}}" "0000162970" "00012109" "90" "-1" "0" "3205" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_25_" "0000256100" "00012109" "50" "-10582" "0" "-10582" "0" "c.-10582T>C" "r.(?)" "p.(=)" "" "0000320104" "00012109" "30" "-10598" "0" "-10598" "0" "c.-10598G>A" "r.(?)" "p.(=)" "" "0000331157" "00012109" "50" "2933" "0" "2933" "0" "c.2933T>C" "r.(?)" "p.(Val978Ala)" "" "0000331158" "00012109" "50" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Arg422Gln)" "" "0000331160" "00012109" "30" "-10598" "0" "-10598" "0" "c.-10598G>A" "r.(?)" "p.(=)" "" "0000526637" "00012109" "50" "-10568" "0" "-10568" "0" "c.-10568G>A" "r.(?)" "p.(=)" "" "0000526639" "00012109" "50" "-10769" "0" "-10769" "0" "c.-10769C>T" "r.(?)" "p.(=)" "" "0000609900" "00012109" "30" "-10192" "0" "-10192" "0" "c.-10192G>A" "r.(?)" "p.(=)" "" "0000609901" "00012109" "50" "-10894" "0" "-10894" "0" "c.-10894A>G" "r.(?)" "p.(=)" "" "0000677587" "00012109" "50" "-10735" "0" "-10735" "0" "c.-10735A>G" "r.(?)" "p.(=)" "" "0000677588" "00012109" "30" "-12070" "0" "-12065" "0" "c.-12070_-12065del" "r.(?)" "p.(=)" "" "0000976920" "00012109" "30" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116His)" "" "0000995242" "00012109" "30" "4767" "0" "4767" "0" "c.*1563C>G" "r.(=)" "p.(=)" "" "0000995243" "00012109" "30" "3161" "0" "3161" "0" "c.3161G>A" "r.(?)" "p.(Arg1054His)" "" "0001035401" "00012109" "50" "5130" "0" "5133" "0" "c.*1926_*1929del" "r.(=)" "p.(=)" "" "0001035402" "00012109" "30" "3976" "0" "3976" "0" "c.*772G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000100662" "0000162970"