### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MBNL1) # 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}}" "MBNL1" "muscleblind-like splicing regulator 1" "3" "q25" "unknown" "NC_000003.11" "UD_136088394374" "" "http://www.LOVD.nl/MBNL1" "" "1" "6923" "4154" "606516" "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/MBNL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-12-04 07:54:54" "00000" "2020-06-15 16:43:45" ## 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}}" "00011874" "MBNL1" "transcript variant 1" "001" "NM_021038.3" "" "NP_066368.2" "" "" "" "-1842" "4562" "1149" "151985829" "152183568" "" "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}}" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00054896" "" "" "" "1" "" "01273" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00054897" "" "" "" "1" "" "01273" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00054898" "" "" "" "1" "" "01273" "" "" "F" "no" "Germany" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00054896" "00244" "00054897" "00244" "00054898" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00244 ## Count = 3 "{{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}}" "0000041561" "00244" "00054897" "01273" "Unknown" "" "myotonic dystrophie like" "" "" "" "" "" "" "" "" "" "0000041562" "00244" "00054896" "01273" "Unknown" "" "myotonic dystrophy like" "" "" "" "" "" "" "" "" "" "0000041563" "00244" "00054898" "01273" "Isolated (sporadic)" "" "myotonic dystrophy like" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054848" "00054896" "1" "01273" "01273" "2015-12-03 18:17:58" "" "" "SEQ-NG-R" "DNA" "PBL" "" "0000054849" "00054897" "1" "01273" "01273" "2015-12-03 18:58:49" "" "" "SEQ-NG-R" "DNA" "PBL" "" "0000054850" "00054898" "1" "01273" "01273" "2015-12-03 19:20:21" "" "" "SEQ-NG-R" "DNA" "PBL" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000054848" "MBNL1" "0000054849" "MBNL1" "0000054850" "MBNL1" ## 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 = 4 "{{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}}" "0000084873" "0" "50" "3" "152432882" "152432890" "del" "0" "01273" "MBNL1_000002" "g.152432882_152432890del" "1/138 DM families" "Larsen, submitted" "" "-" "" "Unknown" "?" "" "0" "" "" "g.152715093_152715101del" "" "VUS" "" "0000084874" "0" "50" "3" "152018077" "152018077" "subst" "3.2495E-5" "01273" "MBNL1_000001" "g.152018077C>T" "1/138 DM families" "Larsen, submitted" "" "-" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" "" "0000084875" "0" "50" "3" "152174070" "152174070" "subst" "0" "01273" "MBNL1_000003" "g.152174070G>A" "1/138 DM families" "Larsen, submitted" "" "-" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" "" "0000518319" "0" "50" "3" "152150505" "152150505" "subst" "0" "02327" "MBNL1_000004" "g.152150505G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152432716G>C" "" "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 MBNL1 ## Count = 4 "{{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}}" "0000084873" "00011874" "50" "511" "0" "519" "0" "c.511_519del" "r.(?)" "p.(Ala171_Ala173del)" "4" "0000084874" "00011874" "50" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Thr32Met)" "2" "0000084875" "00011874" "50" "1012" "0" "1012" "0" "c.1012G>A" "r.(?)" "p.(Gly338Ser)" "8" "0000518319" "00011874" "50" "346" "-1" "346" "-1" "c.346-1G>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000054848" "0000084874" "0000054849" "0000084873" "0000054850" "0000084875"