### LOVD-version 3000-210 ### 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}}" "{{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}}" "KCNQ1" "potassium voltage-gated channel, KQT-like subfamily, member 1" "11" "p15.5" "unknown" "NC_000011.9" "UD_130217024383" "" "" "" "1" "1" "6294" "3784" "607542" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-12-10 20:45:34" "" "" "00000" "2013-12-10 20:45:34" "" ## 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}}" "00003150" "KCNQ1" "transcript variant 1" "001" "NM_000218.2" "" "NP_000209.2" "" "" "" "-108" "3138" "2031" "2466221" "2870340" "00000" "2013-12-10 20:45:34" "" "" "" "11" ## 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 = 3 "{{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}}" "0000001993" "0" "55" "11" "2691471" "2691471" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-12-19 22:00:22" "KCNQ1_000003" "g.2691471A>G" "" "" "" "rs231362" "subst" "0" "; Ensembl;" "-3.860" "" "" "" "" "MSCV_0001993" "" "0000001994" "0" "55" "11" "2839751" "2839751" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-02 14:13:51" "KCNQ1_000002" "g.2839751C>T" "" "" "" "rs2237892" "subst" "0" "; Ensembl;" "-1.240" "" "" "" "" "MSCV_0001994" "" "0000001995" "0" "55" "11" "2849530" "2849530" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-08-27 01:54:08" "KCNQ1_000001" "g.2849530A>C" "" "" "" "rs2283228" "subst" "0" "; Ensembl;" "0.790" "" "" "" "" "MSCV_0001995" "" ## 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 = 3 "{{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}}" "0000001993" "00003150" "55" "1514" "8160" "1514" "8160" "c.1514+8160A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001994" "00003150" "55" "1795" "-29246" "1795" "-29246" "c.1795-29246C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001995" "00003150" "55" "1795" "-19467" "1795" "-19467" "c.1795-19467A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0