### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VCL) # 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}}" "VCL" "vinculin" "10" "q22.1-q23" "unknown" "LRG_383" "UD_139784837459" "" "" "" "1" "1" "12665" "7414" "193065" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:13:02" "" "" "00000" "2014-04-18 19:13:02" "" ## 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}}" "00003285" "VCL" "transcript variant 1" "003" "NM_014000.2" "" "NP_054706.1" "" "" "" "-94" "5396" "3405" "75757872" "75879918" "00000" "2014-04-18 19:13:02" "" "" "" "" ## 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}}" "0000001932" "0" "77" "10" "75830501" "75830501" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:57:26" "VCL_000001" "g.75830501C>T" "" "{PMID:17785437:17785437}" "" "rs397517239" "subst" "0" "; clinvar;" "5.640" "" "" "" "" "MSCV_0001932" "" "0000001933" "0" "77" "10" "75832550" "75832550" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-02-02 09:58:21" "VCL_000002" "g.75832550C>T" "" "{PMID:16949038:16949038}" "" "rs397517244" "subst" "0" "; clinvar;" "4.720" "" "" "" "" "MSCV_0001933" "" "0000001934" "0" "55" "10" "75834531" "75834532" "ins" "35" "0.0000798977" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-08-10 23:16:15" "VCL_000003" "g.75834531_75834532insA" "" "" "" "rs397517245" "ins" "0" ";" "" "" "" "" "" "MSCV_0001934" "" "0000001935" "0" "77" "10" "75855509" "75855509" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-05-23 00:54:31" "VCL_000004" "g.75855509C>T" "" "{PMID:17785437:17785437}" "" "rs397517234" "subst" "0" "; clinvar;" "4.580" "" "" "" "" "MSCV_0001935" "" "0000001936" "0" "99" "10" "75871844" "75871844" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:57:29" "VCL_000005" "g.75871844C>T" "" "{PMID:11815424:11815424};{PMID:16236538:16236538};{PMID:16949038:16949038}" "" "rs121917776" "subst" "0" "; clinvar;" "6.170" "" "" "" "" "MSCV_0001936" "" ## 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}}" "0000001932" "00003285" "77" "313" "0" "313" "0" "c.313C>T" "3/21" "p.(Arg105*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001933" "00003285" "77" "562" "0" "562" "0" "c.562C>T" "5/21" "p.(Arg188*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001934" "00003285" "55" "653" "0" "654" "0" "c.653_654insA" "6/21" "p.(Asn220Lysfs*21)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001935" "00003285" "77" "1639" "0" "1639" "0" "c.1639C>T" "12/21" "p.(Arg547*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001936" "00003285" "99" "2923" "0" "2923" "0" "c.2923C>T" "19/22" "p.(Arg975Trp)" "r.(?)" "possibly_damaging(0.761)" "" "missense_variant" "" "" "deleterious(0.04)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0