### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AGT) # 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}}" "AGT" "angiotensinogen" "1" "q42.2" "unknown" "NG_008836.2" "UD_144407889506" "" "" "" "1" "333" "183" "106150" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-01-06 10:51:33" "" "" "00005" "2021-09-01 12:12:24" ## 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}}" "00000094" "AGT" "angiotensinogen" "001" "NM_000029.3" "" "NP_000020.1" "" "" "" "-508" "2076" "1458" "230714590" "230702523" "00001" "2021-01-06 10:51:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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}}" "AGT" "00054" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00000324" "" "" "" "1" "" "00002" "{PMID:Dzuzaini M Ghazali et al. (2008):17977523}" "" "" "Malaysia" "Malay" "" "" "00000326" "" "" "" "1" "" "00002" "{PMID:Yee-How Say et al. (2005):15811183}" "" "" "Malaysia" "Malay" "" "M" "00000327" "" "" "" "1" "" "00002" "{PMID:Yee-How Say et al. (2005):15811183}" "" "" "Malaysia" "Malay" "" "F" "00000328" "" "" "" "1" "" "00002" "{PMID:Yee-How Say et al. (2005):15811183}" "" "" "Malaysia" "Chinese" "" "M" "00000329" "" "" "" "1" "" "00002" "{PMID:Yee-How Say et al. (2005):15811183}" "" "" "Malaysia" "Chinese" "" "F" "00000330" "" "" "" "1" "" "00002" "{PMID:Yee-How Say et al. (2005):15811183}" "" "" "Malaysia" "Indian" "" "M" "00000331" "" "" "" "1" "" "00002" "{PMID:Yee-How Say et al. (2005):15811183}" "" "" "Malaysia" "Indian" "" "F" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000324" "00054" "00000326" "00054" "00000327" "00054" "00000328" "00054" "00000329" "00054" "00000330" "00054" "00000331" "00054" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00054 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000339" "00000324" "1" "00002" "00002" "2021-01-06 11:37:45" "" "" "SEQ" "DNA" "0000000341" "00000326" "1" "00002" "00002" "2021-01-06 13:18:17" "" "" "PCR" "DNA" "0000000342" "00000327" "1" "00002" "00002" "2021-01-06 13:33:01" "" "" "PCR" "DNA" "0000000343" "00000328" "1" "00002" "00002" "2021-01-06 13:38:09" "" "" "PCR" "DNA" "0000000344" "00000329" "1" "00002" "00002" "2021-01-06 13:44:07" "" "" "PCR" "DNA" "0000000345" "00000330" "1" "00002" "00002" "2021-01-06 14:00:56" "" "" "PCR" "DNA" "0000000346" "00000331" "1" "00002" "00002" "2021-01-06 14:08:43" "" "" "PCR" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000000339" "AGT" "0000000341" "AGT" "0000000342" "AGT" "0000000343" "AGT" "0000000344" "AGT" "0000000345" "AGT" "0000000346" "AGT" ## 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 = 14 "{{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}}" "0000001536" "0" "90" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "66/200" "{PMID:Dzuzaini M Ghazali et al. (2008):17977523}, {dbSNP:rs699}, {OMIM:1061500001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001537" "3" "10" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "127/200" "{PMID:Dzuzaini M Ghazali et al. (2008):17977523}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001540" "1" "90" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "28/97" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001541" "2" "10" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "14/97" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001542" "1" "10" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "36/97" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001543" "0" "90" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "26/97" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001544" "1" "10" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "10/56" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001545" "2" "10" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "10/56" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001546" "1" "10" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "28/56" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001547" "2" "10" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "20/56" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001548" "1" "10" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "1/35" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001549" "2" "10" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "3/35" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001550" "1" "10" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "9/35" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" "0000001551" "2" "10" "1" "230710048" "230710048" "subst" "0" "00002" "AGT_000001" "g.230710048A>G" "17/35" "{PMID:Yee-How Say et al. (2005):15811183}, {dbSNP:rs699}, {OMIM:106150:0001}, {ClinVar:18068}" "M235T" "" "rs699" ## 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 AGT ## Count = 14 "{{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}}" "0000001536" "00000094" "90" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001537" "00000094" "10" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001540" "00000094" "90" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001541" "00000094" "10" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001542" "00000094" "10" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001543" "00000094" "90" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001544" "00000094" "10" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001545" "00000094" "10" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001546" "00000094" "10" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001547" "00000094" "10" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001548" "00000094" "10" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001549" "00000094" "10" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001550" "00000094" "10" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" "0000001551" "00000094" "10" "803" "0" "803" "0" "c.803T>C" "" "p.(Met268Thr)" "r.(?)" "" "" "{ClinVar:18068}" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000000339" "0000001536" "0000000339" "0000001537" "0000000341" "0000001540" "0000000341" "0000001541" "0000000342" "0000001542" "0000000342" "0000001543" "0000000343" "0000001544" "0000000343" "0000001545" "0000000344" "0000001546" "0000000344" "0000001547" "0000000345" "0000001548" "0000000345" "0000001549" "0000000346" "0000001550" "0000000346" "0000001551"