### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADRB2) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "ADRB2" "adrenoceptor beta 2" "5" "q32" "unknown" "NG_016421.2" "UD_144407772417" "" "" "" "1" "286" "154" "109690" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-01-11 10:56:32" "" "" "00005" "2021-09-02 09:21:59" ## 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}}" "00000099" "ADRB2" "adrenoceptor beta 2" "001" "NM_000024.5" "" "NP_000015.1" "" "" "" "-239" "1803" "1242" "148826593" "148828634" "00001" "2021-01-11 10:56:32" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00048" "-" "Obesity" "" "" "" "" "" "00001" "2020-12-22 14:56:53" "" "" "00054" "EH" "Essential Hypertension" "" "" "" "" "" "00001" "2021-01-05 14:55:18" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ADRB2" "00054" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000341" "" "" "" "1" "" "00002" "{PMID:M Komara et al. (2014):24782128}" "" "" "Malaysia" "" "" "" "00000342" "" "" "" "1" "" "00002" "{PMID:Yamunah Devi Apalasamy et al. (2015):22199155}" "" "" "Malaysia" "Malay" "" "" "00000343" "" "" "" "1" "" "00002" "{PMID:A E Atia et al. (2012):22582545}" "" "" "Malaysia" "Malay" "Kuantan" "" "00000345" "" "" "" "1" "" "00002" "{PMID:Soma Roy Mitra et al. (2019):31007954}" "" "" "Malaysia" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000341" "00054" "00000342" "00048" "00000343" "00054" "00000345" "00048" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00048, 00054 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000356" "00000341" "1" "00002" "00002" "2021-01-11 11:01:52" "" "" "PCR" "DNA" "0000000357" "00000342" "1" "00002" "00002" "2021-01-11 11:23:32" "" "" "PCR" "DNA" "0000000358" "00000343" "1" "00002" "00002" "2021-01-11 11:39:43" "" "" "PCR;SEQ" "DNA" "0000000360" "00000345" "1" "00002" "00002" "2021-01-11 15:56:41" "" "" "PCR" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000000356" "ADRB2" "0000000357" "ADRB2" "0000000358" "ADRB2" "0000000360" "ADRB2" ## 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 = 11 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001588" "0" "10" "5" "148826877" "148826877" "subst" "0" "00002" "ADRB2_000002" "g.148826877G>A" "112/160" "{PMID:M Komara et al. (2014):24782128}, {dbSNP:rs1042713}, {ClinVar:17742}" "" "" "rs1042713" "0000001589" "3" "10" "5" "148826877" "148826877" "subst" "0" "00002" "ADRB2_000002" "g.148826877G>A" "12/160" "{PMID:M Komara et al. (2014):24782128}, {dbSNP:rs1042713}, {ClinVar:17742}" "" "" "rs1042713" "0000001590" "0" "10" "5" "148826910" "148826910" "subst" "0" "00002" "ADRB2_000001" "g.148826910G>C" "80/160" "{PMID:M Komara et al. (2014):24782128}, {dbSNP:rs1042714}, {OMIM:109690:0002}, {ClinVar:17743}" "" "" "rs1042714" "0000001591" "3" "10" "5" "148826910" "148826910" "subst" "0" "00002" "ADRB2_000001" "g.148826910G>C" "3/70" "{PMID:M Komara et al. (2014):24782128}, {dbSNP:rs1042714}, {OMIM:109690:0002}, {ClinVar:17743}" "" "" "rs1042714" "0000001592" "0" "10" "5" "148826910" "148826910" "subst" "0" "00002" "ADRB2_000001" "g.148826910G>C" "26/172" "{PMID:Yamunah Devi Apalasamy et al. (2015):22199155}, {dbSNP:rs1042714}, {OMIM:109690:0002}, {ClinVar:17743}" "" "" "rs1042714" "0000001593" "0" "10" "5" "148826877" "148826877" "subst" "0" "00002" "ADRB2_000002" "g.148826877G>A" "23/50" "{PMID:A E Atia et al. (2012):22582545}, {dbSNP:rs1042713}, {OMIM:109690:0001}, {ClinVar:17742}" "" "" "rs1042713" "0000001594" "3" "10" "5" "148826877" "148826877" "subst" "0" "00002" "ADRB2_000002" "g.148826877G>A" "13/50" "{PMID:A E Atia et al. (2012):22582545}, {dbSNP:rs1042713}, {OMIM:109690:0001}, {ClinVar:17742}" "" "" "rs1042713" "0000001595" "0" "10" "5" "148826910" "148826910" "subst" "0" "00002" "ADRB2_000001" "g.148826910G>C" "5/50" "{PMID:A E Atia et al. (2012):22582545}, {dbSNP:rs1042714}, {OMIM:109690:0002}, {ClinVar:17743}" "Gln27Glu" "" "rs1042714" "0000001596" "3" "10" "5" "148826910" "148826910" "subst" "0" "00002" "ADRB2_000001" "g.148826910G>C" "44/50" "{PMID:A E Atia et al. (2012):22582545}, {dbSNP:rs1042714}, {OMIM:109690:0002}, {ClinVar:17743}" "Gln27Glu" "" "rs1042714" "0000001600" "0" "10" "5" "148826877" "148826877" "subst" "0" "00002" "ADRB2_000002" "g.148826877G>A" "41/79" "{PMID:Soma Roy Mitra et al. (2019):31007954}, {dbSNP:rs1042713}, {OMIM:109690:0001}, {ClinVar:17742}" "" "" "rs1042713" "0000001601" "0" "10" "5" "148826877" "148826877" "subst" "0" "00002" "ADRB2_000002" "g.148826877G>A" "19/79" "{PMID:Soma Roy Mitra et al. (2019):31007954}, {dbSNP:rs1042713}, {OMIM:109690:0001}, {ClinVar:17742}" "" "" "rs1042713" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes ADRB2 ## Count = 11 "{{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/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001588" "00000099" "10" "46" "0" "46" "0" "c.46G>A" "" "p.(Gly16Arg)" "r.(?)" "" "" "{ClinVar:17742}" "0000001589" "00000099" "10" "46" "0" "46" "0" "c.46G>A" "" "p.(Gly16Arg)" "r.(?)" "" "" "{ClinVar:17742}" "0000001590" "00000099" "10" "79" "0" "79" "0" "c.79G>C" "" "p.(Glu27Gln)" "r.(?)" "" "" "{ClinVar:17743}" "0000001591" "00000099" "10" "79" "0" "79" "0" "c.79G>C" "" "p.(Glu27Gln)" "r.(?)" "" "" "{ClinVar:17743}" "0000001592" "00000099" "10" "79" "0" "79" "0" "c.79G>C" "" "p.(Glu27Gln)" "r.(?)" "" "" "{ClinVar:17743}" "0000001593" "00000099" "10" "46" "0" "46" "0" "c.46G>A" "" "p.(Gly16Arg)" "r.(?)" "" "" "{ClinVar:17742}" "0000001594" "00000099" "10" "46" "0" "46" "0" "c.46G>A" "" "p.(Gly16Arg)" "r.(?)" "" "" "{ClinVar:17742}" "0000001595" "00000099" "10" "79" "0" "79" "0" "c.79G>C" "" "p.(Glu27Gln)" "r.(?)" "" "" "{ClinVar:17743}" "0000001596" "00000099" "10" "79" "0" "79" "0" "c.79G>C" "" "p.(Glu27Gln)" "r.(?)" "" "" "{ClinVar:17743}" "0000001600" "00000099" "10" "46" "0" "46" "0" "c.46G>A" "" "p.(Gly16Arg)" "r.(?)" "" "" "rs1042713" "0000001601" "00000099" "10" "46" "0" "46" "0" "c.46G>A" "" "p.(Gly16Arg)" "r.(?)" "" "" "{ClinVar:17742}" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000000356" "0000001588" "0000000356" "0000001589" "0000000356" "0000001590" "0000000356" "0000001591" "0000000357" "0000001592" "0000000358" "0000001593" "0000000358" "0000001594" "0000000358" "0000001595" "0000000358" "0000001596" "0000000360" "0000001600" "0000000360" "0000001601"