### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BAG3) # 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}}" "BAG3" "BCL2-associated athanogene 3" "10" "q25.2-q26.2" "unknown" "NG_016125.1" "UD_139310299755" "" "" "" "1" "1" "939" "9531" "603883" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 18:58:25" "" "" "00000" "2014-04-18 18:58:25" "" ## 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}}" "00003245" "BAG3" "BCL2-associated athanogene 3" "002" "NM_004281.3" "" "NP_004272.2" "" "" "" "-306" "2265" "1728" "121410882" "121437331" "00000" "2014-04-18 18:58:25" "" "" "" "" ## 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 = 6 "{{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}}" "0000001877" "0" "99" "10" "121429393" "121429393" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 12:01:59" "BAG3_000003" "g.121429393C>T" "" "{PMID:21353195:21353195}" "" "rs387906874" "subst" "0" "; clinvar;" "3.410" "" "" "" "" "MSCV_0001877" "" "0000001878" "0" "77" "10" "121429549" "121429549" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 12:01:59" "BAG3_000004" "g.121429549C>T" "" "{PMID:21353195:21353195}" "" "rs387906875" "subst" "0" "; clinvar;" "3.460" "" "" "" "" "MSCV_0001878" "" "0000001879" "0" "11" "10" "121429633" "121429633" "subst" "35" "0.151123" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 12:02:00" "BAG3_000005" "g.121429633T>C" "" "{PMID:23757202:23757202}" "" "rs2234962" "subst" "0" "; clinvar;" "0.064" "" "" "" "" "MSCV_0001879" "" "0000001880" "0" "99" "10" "121431911" "121431911" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2015-03-10 04:29:03" "BAG3_000006" "g.121431911C>T" "" "{PMID:21898660:21898660}" "" "rs397514506" "subst" "0" "; clinvar;" "5.240" "" "" "" "" "MSCV_0001880" "" "0000001881" "0" "99" "10" "121436451" "121436451" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:33:40" "BAG3_000001" "g.121436451T>C" "" "{PMID:21898660:21898660}" "" "rs397514507" "subst" "0" "; clinvar;" "5.590" "" "" "" "" "MSCV_0001881" "" "0000001882" "0" "99" "10" "121436496" "121436496" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:38:16" "BAG3_000002" "g.121436496G>A" "" "{PMID:21353195:21353195}" "" "rs387906876" "subst" "0" "; clinvar;" "5.590" "" "" "" "" "MSCV_0001882" "" ## 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 = 6 "{{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}}" "0000001877" "00003245" "99" "211" "0" "211" "0" "c.211C>T" "2/4" "p.(Arg71Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001878" "00003245" "77" "367" "0" "367" "0" "c.367C>T" "2/4" "p.(Arg123*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001879" "00003245" "11" "451" "0" "451" "0" "c.451T>C" "2/4" "p.(Cys151Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001880" "00003245" "99" "652" "0" "652" "0" "c.652C>T" "3/4" "p.(Arg218Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001881" "00003245" "99" "1385" "0" "1385" "0" "c.1385T>C" "4/4" "p.(Leu462Pro)" "r.(?)" "unknown(0)" "" "missense_variant" "" "" "deleterious(0)" "0000001882" "00003245" "99" "1430" "0" "1430" "0" "c.1430G>A" "4/4" "p.(Arg477His)" "r.(?)" "unknown(0)" "" "missense_variant" "" "" "deleterious(0)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0