### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNQ1) # 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}}" "KCNQ1" "potassium voltage-gated channel subfamily Q member 1" "11" "p15.5-p15.4" "unknown" "LRG_287" "UD_144424218698" "" "" "" "1" "6294" "3784" "607542" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-01-04 11:38:46" "" "" "00005" "2021-09-01 11:11:18" ## 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}}" "00000086" "KCNQ1" "transcript variant 1" "001" "NM_000218.2" "" "NP_000209.2" "" "" "" "-108" "3138" "2031" "2444991" "2849110" "00001" "2021-01-04 11:38:46" "" "" ## 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}}" "00050" "T2DM" "Type 2 Diabetes Mellitus" "" "" "" "" "" "00001" "2020-12-28 15:37:52" "" "" "00122" "LQT1" "Long QT Syndrome" "AD" "192500" "" "" "" "00001" "2021-05-20 11:11:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KCNQ1" "00050" "KCNQ1" "00122" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00000314" "" "" "" "1" "" "00002" "{PMID:Riyadh Saif-Ali et al. (2011):22206064}" "" "" "Malaysia" "Malay" "" "" "00000315" "" "" "" "1" "" "00002" "{PMID:Riyadh Saif-Ali et al. (2011):22016621}" "" "" "Malaysia" "Chinese" "" "" "00000648" "" "" "" "1" "" "00004" "{PMID:A R Wong et al.(2019):31424047}" "" "" "Kelantan" "Malay" "" "M" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000314" "00050" "00000315" "00050" "00000648" "00122" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00050, 00122 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000329" "00000314" "1" "00002" "00002" "2021-01-04 11:46:53" "" "" "PCR" "DNA" "0000000330" "00000315" "1" "00002" "00002" "2021-01-04 14:38:24" "" "" "PCR" "DNA" "0000000715" "00000648" "1" "00004" "00004" "2021-05-20 11:56:57" "" "" "?" "?" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000000329" "KCNQ1" "0000000330" "KCNQ1" "0000000715" "KCNQ1" ## 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 = 13 "{{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}}" "0000001493" "0" "90" "11" "2818521" "2818521" "subst" "0" "00002" "KCNQ1_000001" "g.2818521C>T" "79/234" "{PMID:Riyadh Saif-Ali et al. (2011):22206064}, {dbSNP:rs2237892}" "" "" "rs2237892" "0000001494" "3" "90" "11" "2818521" "2818521" "subst" "0" "00002" "KCNQ1_000001" "g.2818521C>T" "125/234" "{PMID:Riyadh Saif-Ali et al. (2011):22206064}, {dbSNP:rs2237892}" "" "" "rs2237892" "0000001495" "0" "90" "11" "2828300" "2828300" "subst" "0" "00002" "KCNQ1_000002" "g.2828300A>C" "72/234" "{PMID:Riyadh Saif-Ali et al. (2011):22206064}, {dbSNP:rs2283228}" "" "" "rs2283228" "0000001496" "3" "90" "11" "2828300" "2828300" "subst" "0" "00002" "KCNQ1_000002" "g.2828300A>C" "141/234" "{PMID:Riyadh Saif-Ali et al. (2011):22206064}, {dbSNP:rs2283228}" "" "" "rs2283228" "0000001497" "0" "90" "11" "2835964" "2835964" "subst" "0" "00002" "KCNQ1_000003" "g.2835964A>C" "91/234" "{PMID:Riyadh Saif-Ali et al. (2011):22206064}, {dbSNP:rs2237895}" "" "" "rs2237895" "0000001498" "3" "90" "11" "2835964" "2835964" "subst" "0" "00002" "KCNQ1_000003" "g.2835964A>C" "123/234" "{PMID:Riyadh Saif-Ali et al. (2011):22206064}, {dbSNP:rs2237895}" "" "" "rs2237895" "0000001499" "0" "90" "11" "2818521" "2818521" "subst" "0" "00002" "KCNQ1_000001" "g.2818521C>T" "99/348" "{PMID:Riyadh Saif-Ali et al. (2011):22016621}, {dbSNP:rs2237892}" "" "" "rs2237892" "0000001500" "3" "90" "11" "2818521" "2818521" "subst" "0" "00002" "KCNQ1_000001" "g.2818521C>T" "183/348" "{PMID:Riyadh Saif-Ali et al. (2011):22016621}, {dbSNP:rs2237892}" "" "" "rs2237892" "0000001501" "0" "90" "11" "2828300" "2828300" "subst" "0" "00002" "KCNQ1_000002" "g.2828300A>C" "105/348" "{PMID:Riyadh Saif-Ali et al. (2011):22016621}, {dbSNP:rs2283228}" "" "" "rs2283228" "0000001502" "3" "90" "11" "2828300" "2828300" "subst" "0" "00002" "KCNQ1_000002" "g.2828300A>C" "168/348" "{PMID:Riyadh Saif-Ali et al. (2011):22016621}, {dbSNP:rs2283228}" "" "" "rs2283228" "0000001503" "0" "90" "11" "2835964" "2835964" "subst" "0" "00002" "KCNQ1_000003" "g.2835964A>C" "147/348" "{PMID:Riyadh Saif-Ali et al. (2011):22016621}, {dbSNP:rs2237895}" "" "" "rs2237895" "0000001504" "3" "90" "11" "2835964" "2835964" "subst" "0" "00002" "KCNQ1_000003" "g.2835964A>C" "123/348" "{PMID:Riyadh Saif-Ali et al. (2011):22016621}, {dbSNP:rs2237895}" "" "" "rs2237895" "0000002808" "0" "90" "11" "2777000" "2777000" "subst" "0" "00004" "KCNQ1_000004" "g.2777000T>C" "" "{PMID:A R Wong et al.(2019):31424047}" "" "" "rs199472805" ## 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 KCNQ1 ## Count = 13 "{{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}}" "0000001493" "00000086" "90" "1795" "-29246" "1795" "-29246" "c.1795-29246C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001494" "00000086" "90" "1795" "-29246" "1795" "-29246" "c.1795-29246C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001495" "00000086" "90" "1795" "-19467" "1795" "-19467" "c.1795-19467A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001496" "00000086" "90" "1795" "-19467" "1795" "-19467" "c.1795-19467A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001497" "00000086" "90" "1795" "-11803" "1795" "-11803" "c.1795-11803A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001498" "00000086" "90" "1795" "-11803" "1795" "-11803" "c.1795-11803A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001499" "00000086" "90" "1795" "-29246" "1795" "-29246" "c.1795-29246C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001500" "00000086" "90" "1795" "-29246" "1795" "-29246" "c.1795-29246C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001501" "00000086" "90" "1795" "-19467" "1795" "-19467" "c.1795-19467A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001502" "00000086" "90" "1795" "-19467" "1795" "-19467" "c.1795-19467A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001503" "00000086" "90" "1795" "-11803" "1795" "-11803" "c.1795-11803A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001504" "00000086" "90" "1795" "-11803" "1795" "-11803" "c.1795-11803A>C" "" "p.(=)" "r.(=)" "" "" "" "0000002808" "00000086" "90" "1700" "0" "1700" "0" "c.1700T>C" "14" "p.(Ile567Thr)" "r.(?)" "" "" "Pathogenic" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000000329" "0000001493" "0000000329" "0000001494" "0000000329" "0000001495" "0000000329" "0000001496" "0000000329" "0000001497" "0000000329" "0000001498" "0000000330" "0000001499" "0000000330" "0000001500" "0000000330" "0000001501" "0000000330" "0000001502" "0000000330" "0000001503" "0000000330" "0000001504" "0000000715" "0000002808"