### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DES) # 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}}" "DES" "desmin" "2" "q35" "unknown" "LRG_380" "UD_139398248480" "" "" "" "1" "1" "2770" "1674" "125660" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:07:31" "" "" "00000" "2014-04-18 19:07:31" "" ## 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}}" "00003275" "DES" "desmin" "001" "NM_001927.3" "" "NP_001918.3" "" "" "" "-86" "2162" "1413" "220283099" "220291461" "00000" "2014-04-18 19:07:31" "" "" "" "" ## 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 = 3 "{{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}}" "0000002874" "0" "99" "2" "220283222" "220283222" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-02-28 01:47:50" "DES_000003" "g.220283222C>T" "" "{PMID:18061454:18061454};{PMID:19763525:19763525};{PMID:19879535:19879535};{PMID:17720647:17720647}" "" "rs62636495" "subst" "0" "; clinvar;" "5.120" "" "" "" "" "MSCV_0002874" "" "0000002875" "0" "99" "2" "220290449" "220290449" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-11-05 19:42:47" "DES_000001" "g.220290449C>G" "" "{PMID:10430757:10430757}" "" "rs121913002" "subst" "0" "; clinvar;" "-7.380" "" "" "" "" "MSCV_0002875" "" "0000002876" "0" "99" "2" "220290449" "220290449" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:53:51" "DES_000002" "g.220290449C>T" "" "{PMID:10430757:10430757}" "" "rs121913002" "subst" "0" "; clinvar;" "-7.380" "" "" "" "" "MSCV_0002876" "" ## 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 = 3 "{{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}}" "0000002874" "00003275" "99" "38" "0" "38" "0" "c.38C>T" "1/9" "p.(Ser13Phe)" "r.(?)" "unknown(0)" "" "missense_variant" "" "" "deleterious(0)" "0000002875" "00003275" "99" "1353" "0" "1353" "0" "c.1353C>G" "8/9" "p.(Ile451Met)" "r.(?)" "probably_damaging(0.957)" "" "missense_variant" "" "" "deleterious(0)" "0000002876" "00003275" "99" "1353" "0" "1353" "0" "c.1353C>T" "8/9" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0