### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MTCL1) # 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}}" "MTCL1" "microtubule crosslinking factor 1" "18" "p11.22" "unknown" "NC_000018.9" "" "" "https://www.LOVD.nl/MTCL1" "" "1" "29121" "23255" "615766" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2018-10-14 00:00:00" "00006" "2020-08-05 09:09:53" "00000" "2024-08-28 13:16:32" ## 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}}" "00025326" "MTCL1" "NM_015210.3" "" "NM_015210.3" "" "NP_056025.2" "" "" "" "-142" "5950" "4761" "8717369" "8832775" "00001" "2018-10-14 17:55:46" "" "" ## 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}}" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" ## 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}}" "00181224" "" "" "" "1" "" "02373" "{PMID:Krygier 2019:30548255}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relative" "M" "no" "Poland" "" "0" "" "" "white" "R_3218" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00181224" "05356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05356 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000143395" "05356" "00181224" "02373" "Familial, autosomal recessive" "23y" "see paper; ..., HP:0002497, HP:0012736, HP:0001256" "" "" "" "" "" "" "" "ataxia" ## 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}}" "0000182182" "00181224" "1" "02373" "02373" "2018-10-08 12:38:06" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## 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 = 11 "{{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}}" "0000283746" "0" "50" "18" "8784395" "8784395" "subst" "1.65815E-5" "02329" "MTCL1_000005" "g.8784395G>A" "" "" "" "MTCL1(NM_015210.4):c.1285G>A (p.G429R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8784397G>A" "" "VUS" "" "0000408145" "3" "70" "18" "8784330" "8784330" "del" "0" "02373" "MTCL1_000001" "g.8784330del" "Variant not found in online data sets" "{PMID:Krygier 2019:30548255}" "" "1220delA" "" "Germline" "yes" "" "0" "" "" "g.8784332del" "" "likely pathogenic" "" "0000565466" "0" "30" "18" "8777849" "8777849" "subst" "3.25717E-5" "01943" "MTCL1_000002" "g.8777849A>C" "" "" "" "MTCL1(NM_015210.3):c.376A>C (p.S126R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8777851A>C" "" "likely benign" "" "0000565468" "0" "50" "18" "8786039" "8786039" "subst" "0.000117879" "01943" "MTCL1_000007" "g.8786039G>A" "" "" "" "MTCL1(NM_015210.3):c.1837G>A (p.G613R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8786041G>A" "" "VUS" "" "0000617265" "0" "50" "18" "8784834" "8784834" "subst" "9.16838E-5" "01943" "MTCL1_000010" "g.8784834A>G" "" "" "" "MTCL1(NM_015210.3):c.1724A>G (p.D575G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8784836A>G" "" "VUS" "" "0000617266" "0" "30" "18" "8824849" "8824849" "subst" "0.000105621" "01943" "MTCL1_000011" "g.8824849A>C" "" "" "" "MTCL1(NM_015210.3):c.3341A>C (p.K1114T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8824851A>C" "" "likely benign" "" "0000983127" "0" "50" "18" "8784816" "8784816" "subst" "0" "01804" "MTCL1_000012" "g.8784816G>A" "" "" "" "MTCL1(NM_001378207.1):c.2786G>A (p.(Gly929Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983128" "0" "30" "18" "8824926" "8824926" "subst" "0.00120651" "01804" "MTCL1_000013" "g.8824926C>T" "" "" "" "MTCL1(NM_001378207.1):c.4375C>T (p.(Arg1459Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004263" "0" "50" "18" "8786077" "8786077" "subst" "0" "01804" "MTCL1_000014" "g.8786077C>A" "" "" "" "SOGA2(NM_015210.3):c.1875C>A (p.(Cys625*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004264" "0" "30" "18" "8825220" "8825220" "subst" "0" "01804" "MTCL1_000015" "g.8825220T>A" "" "" "" "SOGA2(NM_015210.3):c.3712T>A (p.(Trp1238Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004265" "0" "50" "18" "8831675" "8831675" "subst" "0.00064248" "01804" "MTCL1_000016" "g.8831675G>A" "" "" "" "SOGA2(NM_015210.3):c.*89G>A (p.?)" "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 MTCL1 ## Count = 11 "{{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}}" "0000283746" "00025326" "50" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Gly429Arg)" "" "0000408145" "00025326" "70" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407Serfs*39)" "" "0000565466" "00025326" "30" "376" "0" "376" "0" "c.376A>C" "r.(?)" "p.(Ser126Arg)" "" "0000565468" "00025326" "50" "1837" "0" "1837" "0" "c.1837G>A" "r.(?)" "p.(Gly613Arg)" "" "0000617265" "00025326" "50" "1724" "0" "1724" "0" "c.1724A>G" "r.(?)" "p.(Asp575Gly)" "" "0000617266" "00025326" "30" "3341" "0" "3341" "0" "c.3341A>C" "r.(?)" "p.(Lys1114Thr)" "" "0000983127" "00025326" "50" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Gly569Glu)" "" "0000983128" "00025326" "30" "3418" "0" "3418" "0" "c.3418C>T" "r.(?)" "p.(Arg1140Trp)" "" "0001004263" "00025326" "50" "1875" "0" "1875" "0" "c.1875C>A" "r.(?)" "p.(Cys625*)" "" "0001004264" "00025326" "30" "3712" "0" "3712" "0" "c.3712T>A" "r.(?)" "p.(Trp1238Arg)" "" "0001004265" "00025326" "50" "4850" "0" "4850" "0" "c.*89G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000182182" "0000408145"