### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCN5A) # 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}}" "SCN5A" "sodium channel, voltage-gated, type V, alpha subunit" "3" "p21" "unknown" "LRG_289" "UD_139648519511" "" "" "" "1" "1" "10593" "6331" "600163" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:03:28" "" "" "00000" "2014-04-18 19:03:28" "" ## 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}}" "00003265" "SCN5A" "transcript variant 1" "004" "NM_198056.2" "" "NP_932173.1" "" "" "" "-194" "8310" "6051" "38589553" "38691163" "00000" "2014-04-18 19:03:28" "" "" "" "" ## 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 = 7 "{{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}}" "0000003059" "0" "99" "3" "38592356" "38592356" "subst" "35" "0.000863151" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 12:07:27" "SCN5A_000007" "g.38592356A>G" "" "{PMID:19412328:19412328};{PMID:19841300:19841300};{PMID:20129283:20129283}" "" "rs45563942" "subst" "0" "; clinvar;" "4.820" "" "" "" "" "MSCV_0003059" "" "0000003060" "0" "99" "3" "38595800" "38595800" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-11-19 09:45:05" "SCN5A_000005" "g.38595800C>G" "" "{PMID:11804990:11804990};{PMID:15671429:15671429};{PMID:18048769:18048769}" "" "rs137854607" "subst" "0" "; clinvar;" "3.690" "" "" "" "" "MSCV_0003060" "" "0000003061" "0" "99" "3" "38595800" "38595800" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-08-06 11:46:33" "SCN5A_000006" "g.38595800C>T" "" "{PMID:11804990:11804990};{PMID:15671429:15671429};{PMID:18048769:18048769}" "" "rs137854607" "subst" "0" "; clinvar;" "3.690" "" "" "" "" "MSCV_0003061" "" "0000003062" "0" "99" "3" "38607917" "38607917" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-07-08 07:07:46" "SCN5A_000001" "g.38607917C>T" "" "{PMID:12522116:12522116};{PMID:16684018:16684018};{PMID:20129283:20129283};{PMID:22247482:22247482};{PMID:3953067:3953067};{PMID:15466643:15466643};{PMID:19251209:19251209};{PMID:20384651:20384651};{PMID:15998690:15998690};{PMID:20539757:20539757};{PMID:2" "" "rs137854618" "subst" "0" "; clinvar;" "4.790" "" "" "" "" "MSCV_0003062" "" "0000003063" "0" "55" "3" "38627418" "38627419" "ins" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-05-31 07:34:48" "SCN5A_000002" "g.38627418_38627419insCA" "" "{PMID:15671429:15671429}" "" "rs397514450" "ins" "0" ";" "" "" "" "" "" "MSCV_0003063" "" "0000003064" "0" "99" "3" "38655272" "38655272" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-08-06 10:30:47" "SCN5A_000003" "g.38655272C>T" "" "{PMID:22766342:22766342};{PMID:20458009:20458009};{PMID:22277643:22277643};{PMID:19716085:19716085};{PMID:20129283:20129283};{PMID:21167004:21167004};{PMID:21596231:21596231};{PMID:22710484:22710484};{PMID:19412328:19412328};{PMID:22999724:22999724}" "" "rs45546039" "subst" "0" "; clinvar;" "4.300" "" "" "" "" "MSCV_0003064" "" "0000003065" "0" "99" "3" "38655278" "38655278" "subst" "35" "0.000321543" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-08-06 09:52:56" "SCN5A_000004" "g.38655278G>A" "" "{PMID:14523039:14523039};{PMID:15671429:15671429};{PMID:20448214:20448214};{PMID:22685113:22685113};{PMID:24055113:24055113};{PMID:24059039:24059039};{PMID:17368591:17368591};{PMID:20384651:20384651};{PMID:24136861:24136861};{PMID:20129283:20129283};{PMID" "" "rs45620037" "subst" "0" "; clinvar;" "4.300" "" "" "" "" "MSCV_0003065" "" ## 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 = 7 "{{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}}" "0000003059" "00003265" "99" "5507" "0" "5507" "0" "c.5507T>C" "28/28" "p.(Ile1836Thr)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0.02)" "0000003060" "00003265" "99" "4783" "0" "4783" "0" "c.4783G>C" "27/28" "p.(Asp1595His)" "r.(?)" "probably_damaging(0.974)" "" "missense_variant" "" "" "deleterious(0)" "0000003061" "00003265" "99" "4783" "0" "4783" "0" "c.4783G>A" "27/28" "p.(Asp1595Asn)" "r.(?)" "possibly_damaging(0.771)" "" "missense_variant" "" "" "deleterious(0)" "0000003062" "00003265" "99" "3823" "0" "3823" "0" "c.3823G>A" "21/27" "p.(Asp1275Asn)" "r.(?)" "probably_damaging(0.915)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003063" "00003265" "55" "2551" "0" "2550" "0" "c.2550_2551insTG" "" "p.(Phe851Cysfs*19)" "r.(?)" "" "" "" "" "" "-" "0000003064" "00003265" "99" "665" "0" "665" "0" "c.665G>A" "6/28" "p.(Arg222Gln)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003065" "00003265" "99" "659" "0" "659" "0" "c.659C>T" "6/28" "p.(Thr220Ile)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant" "" "" "deleterious(0)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0