### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCN2A) # 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}}" "SCN2A" "sodium channel, voltage-gated, type II, alpha subunit" "2" "q24.3" "unknown" "NG_008143.1" "UD_139417068343" "" "" "" "1" "1" "10588" "6326" "182390" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 18:57:41" "" "" "00000" "2014-04-18 18:57:41" "" ## 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}}" "00003243" "SCN2A" "transcript variant 1" "006" "NM_021007.2" "" "NP_066287.2" "" "" "" "-356" "8504" "6018" "166150341" "166248820" "00000" "2014-04-18 18:57:41" "" "" "" "" ## 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 = 4 "{{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}}" "0000002774" "0" "99" "2" "166153563" "166153563" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2020-03-09 18:32:11" "SCN2A_000001" "g.166153563C>T" "" "{PMID:15028761:15028761}" "" "rs387906683" "subst" "0" "; clinvar;" "5.560" "" "" "" "" "MSCV_0002774" "" "0000002775" "0" "99" "2" "166166923" "166166923" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-06 14:24:34" "SCN2A_000002" "g.166166923C>T" "" "{PMID:20956790:20956790}" "" "rs387906686" "subst" "0" "; clinvar;" "5.270" "" "" "" "" "MSCV_0002775" "" "0000002776" "0" "99" "2" "166223837" "166223837" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-06-07 00:07:39" "SCN2A_000003" "g.166223837G>A" "" "{PMID:19786696:19786696}" "" "rs387906684" "subst" "0" "; clinvar;" "6.070" "" "" "" "" "MSCV_0002776" "" "0000002777" "0" "99" "2" "166237212" "166237212" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-06-06 23:29:45" "SCN2A_000004" "g.166237212A>G" "" "{PMID:19786696:19786696}" "" "rs387906685" "subst" "0" "; clinvar;" "3.740" "" "" "" "" "MSCV_0002777" "" ## 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 = 4 "{{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}}" "0000002774" "00003243" "99" "304" "0" "304" "0" "c.304C>T" "4/28" "p.(Arg102*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002775" "00003243" "99" "788" "0" "788" "0" "c.788C>T" "7/27" "p.(Ala263Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000002776" "00003243" "99" "3631" "0" "3631" "0" "c.3631G>A" "20/28" "p.(Glu1211Lys)" "r.(?)" "probably_damaging(0.967)" "" "missense_variant" "" "" "deleterious(0.01)" "0000002777" "00003243" "99" "4419" "0" "4419" "0" "c.4419A>G" "25/28" "p.(Ile1473Met)" "r.(?)" "possibly_damaging(0.563)" "" "missense_variant" "" "" "deleterious(0)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0