### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACTC1) # 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}}" "ACTC1" "actin, alpha, cardiac muscle 1" "15" "q14" "unknown" "LRG_388" "UD_139203526127" "" "" "" "1" "1" "143" "70" "102540" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:15:35" "" "" "00000" "2014-04-18 19:15:35" "" ## 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}}" "00003288" "ACTC1" "actin, alpha, cardiac muscle 1" "001" "NM_005159.4" "" "NP_005150.1" "" "" "" "-243" "3450" "1134" "35080297" "35087927" "00000" "2014-04-18 19:15:35" "" "" "" "" ## 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}}" "0000002311" "0" "99" "15" "35082659" "35082659" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 12:03:04" "ACTC1_000003" "g.35082659T>C" "" "{PMID:9563954:9563954}" "" "rs121912674" "subst" "0" "; clinvar;" "4.920" "" "" "" "" "MSCV_0002311" "" "0000002312" "0" "99" "15" "35083364" "35083364" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2020-07-22 20:13:32" "ACTC1_000001" "g.35083364C>T" "" "{PMID:9563954:9563954}" "" "rs121912673" "subst" "0" "; clinvar;" "5.490" "" "" "" "" "MSCV_0002312" "" "0000002313" "0" "77" "15" "35084672" "35084672" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-01-29 00:00:44" "ACTC1_000002" "g.35084672G>A" "" "" "" "rs397517065" "subst" "0" "; clinvar;" "2.990" "" "" "" "" "MSCV_0002313" "" ## 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}}" "0000002311" "00003288" "99" "1088" "0" "1088" "0" "c.1088A>G" "7/7" "p.(Glu363Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0.02)" "0000002312" "00003288" "99" "941" "0" "941" "0" "c.941G>A" "6/7" "p.(Arg314His)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002313" "00003288" "77" "553" "0" "553" "0" "c.553C>T" "4/7" "p.(Arg185Trp)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0.01)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0