### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYBPC3) # 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}}" "MYBPC3" "myosin binding protein C, cardiac" "11" "p11.2" "unknown" "LRG_386" "UD_139264683979" "" "" "" "1" "1" "7551" "4607" "600958" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:00:10" "" "" "00000" "2014-04-18 19:00:10" "" ## 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}}" "00003256" "MYBPC3" "myosin binding protein C, cardiac" "001" "NM_000256.3" "" "NP_000247.2" "" "" "" "-55" "4162" "3825" "47352957" "47374253" "00000" "2014-04-18 19:00:10" "" "" "" "" ## 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 = 5 "{{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}}" "0000002000" "0" "77" "11" "47354145" "47354145" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:36:57" "MYBPC3_000005" "g.47354145A>G" "" "{PMID:15519027:15519027}" "" "rs397516028" "subst" "0" "; clinvar;" "5.340" "" "" "" "" "MSCV_0002000" "" "0000002001" "0" "99" "11" "47355475" "47355475" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:36:57" "MYBPC3_000004" "g.47355475G>C" "" "{PMID:19150014:19150014};{PMID:18929575:18929575};{PMID:15519027:15519027};{PMID:16181148:16181148}" "" "rs11570112" "subst" "0" "; clinvar;" "4.100" "" "" "" "" "MSCV_0002001" "" "0000002002" "0" "99" "11" "47356616" "47356616" "subst" "35" "0.0000817127" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-25 21:50:43" "MYBPC3_000001" "g.47356616G>A" "" "{PMID:12403824:12403824}" "" "rs373056282" "subst" "0" "; clinvar;" "4.240" "" "" "" "" "MSCV_0002002" "" "0000002003" "0" "99" "11" "47356655" "47356655" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 00:28:41" "MYBPC3_000002" "g.47356655T>G" "" "{PMID:12379228:12379228}" "" "rs121909376" "subst" "0" "; clinvar;" "5.290" "" "" "" "" "MSCV_0002003" "" "0000002004" "0" "33" "11" "47364209" "47364209" "subst" "51" "0.0002331" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-03 01:36:05" "MYBPC3_000003" "g.47364209T>C" "" "" "" "rs181834806" "subst" "0" "; clinvar;" "4.630" "" "" "" "" "MSCV_0002004" "" ## 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 = 5 "{{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}}" "0000002000" "00003256" "77" "3599" "0" "3599" "0" "c.3599T>C" "32/35" "p.(Leu1200Pro)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000002001" "00003256" "11" "2992" "0" "2992" "0" "c.2992C>G" "28/35" "p.(Gln998Glu)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.02)" "0000002002" "00003256" "99" "2882" "0" "2882" "0" "c.2882C>T" "27/35" "p.(Pro961Leu)" "r.(?)" "benign(0.065)" "" "missense_variant" "" "" "deleterious(0)" "0000002003" "00003256" "99" "2843" "0" "2843" "0" "c.2843A>C" "27/35" "p.(Asn948Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002004" "00003256" "77" "1544" "0" "1544" "0" "c.1544A>G" "17/27" "p.(Asn515Ser)" "r.(?)" "benign(0.044)" "" "missense_variant,NMD_transcript_variant" "" "" "tolerated(0.4)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0