### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LDB3) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "LDB3" "LIM domain binding 3" "10" "q22.3-q23.2" "unknown" "LRG_385" "UD_139784747273" "" "" "" "1" "1" "15710" "11155" "605906" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 18:58:09" "" "" "00000" "2014-04-18 18:58:09" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003244" "LDB3" "transcript variant 2" "013" "NM_001080114.1" "" "NP_001073583.1" "" "" "" "-23" "4946" "1854" "88428426" "88495825" "00000" "2014-04-18 18:58:09" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## 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 = 8 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000001954" "0" "11" "10" "88441437" "88441437" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2020-02-10 11:33:38" "LDB3_000008" "g.88441437C>T" "" "{PMID:14662268:14662268}" "" "rs45487699" "subst" "0" "; clinvar;" "3.820" "" "" "" "" "MSCV_0001954" "" "0000001955" "0" "99" "10" "88446864" "88446864" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:56:18" "LDB3_000006" "g.88446864A>T" "" "{PMID:14662268:14662268}" "" "rs121908339" "subst" "0" "; clinvar;" "5.000" "" "" "" "" "MSCV_0001955" "" "0000001956" "0" "99" "10" "88446975" "88446975" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:56:19" "LDB3_000007" "g.88446975C>T" "" "{PMID:17337483:17337483};{PMID:18765652:18765652};{PMID:15668942:15668942};{PMID:19377068:19377068}" "" "rs121908334" "subst" "0" "; clinvar;" "5.140" "" "" "" "" "MSCV_0001956" "" "0000001957" "0" "99" "10" "88466426" "88466426" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:55:09" "LDB3_000004" "g.88466426C>G" "" "{PMID:14662268:14662268}" "" "rs121908336" "subst" "0" "; clinvar;" "0.984" "" "" "" "" "MSCV_0001957" "" "0000001958" "0" "99" "10" "88466426" "88466426" "subst" "35" "0.000691988" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-10-12 12:12:01" "LDB3_000005" "g.88466426C>T" "" "{PMID:14662268:14662268}" "" "rs121908336" "subst" "0" "; clinvar;" "0.984" "" "" "" "" "MSCV_0001958" "" "0000001959" "0" "77" "10" "88466442" "88466442" "subst" "35" "0.000384438" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:44:34" "LDB3_000001" "g.88466442A>G" "" "{PMID:17235623:17235623}" "" "rs138251566" "subst" "0" "; clinvar;" "-9.330" "" "" "" "" "MSCV_0001959" "" "0000001960" "0" "99" "10" "88485932" "88485932" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2020-02-09 04:06:29" "LDB3_000002" "g.88485932G>A" "" "{PMID:14660611:14660611};{PMID:16427346:16427346}" "" "rs45514002" "subst" "0" "; clinvar;" "5.540" "" "" "" "" "MSCV_0001960" "" "0000001961" "0" "77" "10" "88486007" "88486007" "subst" "35" "0.000461326" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:44:36" "LDB3_000003" "g.88486007G>A" "" "{PMID:19412328:19412328};{PMID:20590677:20590677}" "" "rs45577134" "subst" "0" "; clinvar;" "5.540" "" "" "" "" "MSCV_0001961" "" ## 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. ## Count = 8 "{{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/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000001954" "00003244" "11" "321" "1523" "321" "1523" "c.321+1523C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001955" "00003244" "99" "383" "0" "383" "0" "c.383A>T" "5/8" "p.(Lys128Met)" "r.(?)" "benign(0.06)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001956" "00003244" "99" "494" "0" "494" "0" "c.494C>T" "5/8" "p.(Ala165Val)" "r.(?)" "benign(0.209)" "" "missense_variant" "" "" "tolerated(0.15)" "0000001957" "00003244" "99" "756" "-3236" "756" "-3236" "c.756-3236C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001958" "00003244" "99" "756" "-3236" "756" "-3236" "c.756-3236C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001959" "00003244" "77" "756" "-3220" "756" "-3220" "c.756-3220A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001960" "00003244" "99" "1687" "0" "1687" "0" "c.1687G>A" "13/14" "p.(Asp563Asn)" "r.(?)" "probably_damaging(0.991)" "" "missense_variant" "" "" "deleterious(0)" "0000001961" "00003244" "77" "1762" "0" "1762" "0" "c.1762G>A" "13/14" "p.(Ala588Thr)" "r.(?)" "probably_damaging(0.981)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0