### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STXBP1) # 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}}" "STXBP1" "syntaxin binding protein 1" "9" "q34.1" "unknown" "NG_016623.1" "UD_139419033985" "" "" "" "1" "1" "11444" "6812" "602926" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 18:57:11" "" "" "00000" "2014-04-18 18:57:11" "" ## 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}}" "00003240" "STXBP1" "transcript variant 1" "001" "NM_003165.3" "" "NP_003156.1" "" "" "" "-197" "3770" "1812" "130374486" "130454995" "00000" "2014-04-18 18:57:11" "" "" "" "" ## 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 = 5 "{{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}}" "0000003409" "0" "99" "9" "130422313" "130422313" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 00:18:31" "STXBP1_000001" "g.130422313T>A" "" "{PMID:18469812:18469812}" "" "rs121918320" "subst" "0" "; clinvar;" "5.650" "" "" "" "" "MSCV_0003409" "" "0000003410" "0" "99" "9" "130425593" "130425593" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 00:18:28" "STXBP1_000002" "g.130425593G>A" "" "{PMID:18469812:18469812}" "" "rs121918318" "subst" "0" "; clinvar;" "5.640" "" "" "" "" "MSCV_0003410" "" "0000003411" "0" "99" "9" "130438134" "130438134" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 00:18:35" "STXBP1_000003" "g.130438134C>T" "" "{PMID:19557857:19557857}" "" "rs121918321" "subst" "0" "; clinvar;" "1.750" "" "" "" "" "MSCV_0003411" "" "0000003412" "0" "99" "9" "130439001" "130439001" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-06-14 17:09:30" "STXBP1_000004" "g.130439001T>G" "" "{PMID:18469812:18469812}" "" "rs121918319" "subst" "0" "; clinvar;" "5.200" "" "" "" "" "MSCV_0003412" "" "0000003413" "0" "99" "9" "130444768" "130444768" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 00:18:45" "STXBP1_000005" "g.130444768G>A" "" "{PMID:18469812:18469812}" "" "rs121918317" "subst" "0" "; clinvar;" "5.620" "" "" "" "" "MSCV_0003413" "" ## 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 = 5 "{{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}}" "0000003409" "00003240" "99" "251" "0" "251" "0" "c.251T>A" "5/20" "p.(Val84Asp)" "r.(?)" "possibly_damaging(0.643)" "" "missense_variant" "" "" "deleterious(0)" "0000003410" "00003240" "99" "539" "0" "539" "0" "c.539G>A" "7/20" "p.(Cys180Tyr)" "r.(?)" "possibly_damaging(0.894)" "" "missense_variant" "" "" "deleterious(0)" "0000003411" "00003240" "99" "1162" "0" "1162" "0" "c.1162C>T" "14/20" "p.(Arg388*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003412" "00003240" "99" "1328" "0" "1328" "0" "c.1328T>G" "15/20" "p.(Met443Arg)" "r.(?)" "benign(0.307)" "" "missense_variant" "" "" "tolerated(0.12)" "0000003413" "00003240" "99" "1631" "0" "1631" "0" "c.1631G>A" "18/20" "p.(Gly544Asp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0