### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RBM20) # 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}}" "RBM20" "RNA binding motif protein 20" "10" "q25.3" "unknown" "LRG_382" "UD_139784777868" "" "" "" "1" "1" "27424" "282996" "613171" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:03:03" "" "" "00000" "2014-04-18 19:03:03" "" ## 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}}" "00003264" "RBM20" "RNA binding motif protein 20" "001" "NM_001134363.1" "" "NP_001127835.1" "" "" "" "-58" "7175" "3684" "112404155" "112599227" "00000" "2014-04-18 19:03:03" "" "" "" "" ## 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 = 7 "{{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}}" "0000001863" "0" "55" "10" "112557341" "112557341" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:45:14" "RBM20_000001" "g.112557341G>A" "" "" "" "rs183007628" "subst" "0" ";" "5.770" "" "" "" "" "MSCV_0001863" "" "0000001864" "0" "99" "10" "112572056" "112572056" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:45:16" "RBM20_000002" "g.112572056G>A" "" "{PMID:19712804:19712804}" "" "rs267607001" "subst" "0" "; clinvar;" "5.690" "" "" "" "" "MSCV_0001864" "" "0000001865" "0" "77" "10" "112572061" "112572061" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:45:17" "RBM20_000003" "g.112572061C>A" "" "{PMID:22004663:22004663};{PMID:19712804:19712804};{PMID:22466703:22466703};{PMID:22561820:22561820};{PMID:20590677:20590677}" "" "rs267607002" "subst" "0" "; clinvar;" "5.690" "" "" "" "" "MSCV_0001865" "" "0000001866" "0" "77" "10" "112572061" "112572061" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:45:18" "RBM20_000004" "g.112572061C>T" "" "{PMID:22004663:22004663};{PMID:19712804:19712804};{PMID:22466703:22466703};{PMID:22561820:22561820};{PMID:20590677:20590677}" "" "rs267607002" "subst" "0" "; clinvar;" "5.690" "" "" "" "" "MSCV_0001866" "" "0000001867" "0" "99" "10" "112572062" "112572062" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:45:20" "RBM20_000005" "g.112572062G>A" "" "{PMID:19712804:19712804};{PMID:20590677:20590677};{PMID:23861363:23861363}" "" "rs267607004" "subst" "0" "; clinvar;" "5.690" "" "" "" "" "MSCV_0001867" "" "0000001868" "0" "99" "10" "112572064" "112572064" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:45:20" "RBM20_000006" "g.112572064A>G" "" "{PMID:19712804:19712804}" "" "rs267607005" "subst" "0" "; clinvar;" "5.690" "" "" "" "" "MSCV_0001868" "" "0000001869" "0" "99" "10" "112572068" "112572068" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:45:21" "RBM20_000007" "g.112572068C>T" "" "{PMID:22466703:22466703};{PMID:19712804:19712804};{PMID:20590677:20590677};{PMID:22004663:22004663}" "" "rs267607003" "subst" "0" "; clinvar;" "5.690" "" "" "" "" "MSCV_0001869" "" ## 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 = 7 "{{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}}" "0000001863" "00003264" "55" "1603" "0" "1603" "0" "c.1603G>A" "6/14" "p.(Val535Ile)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "tolerated(0.08)" "0000001864" "00003264" "99" "1901" "0" "1901" "0" "c.1901G>A" "9/14" "p.(Arg634Gln)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000001865" "00003264" "77" "1906" "0" "1906" "0" "c.1906C>A" "9/14" "p.(Arg636Ser)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000001866" "00003264" "77" "1906" "0" "1906" "0" "c.1906C>T" "9/14" "p.(Arg636Cys)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000001867" "00003264" "77" "1907" "0" "1907" "0" "c.1907G>A" "9/14" "p.(Arg636His)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000001868" "00003264" "99" "1909" "0" "1909" "0" "c.1909A>G" "9/14" "p.(Ser637Gly)" "r.(?)" "probably_damaging(0.986)" "" "missense_variant" "" "" "deleterious(0)" "0000001869" "00003264" "99" "1913" "0" "1913" "0" "c.1913C>T" "9/14" "p.(Pro638Leu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0