### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FASTK) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "FASTK" "Fas-activated serine/threonine kinase" "7" "q35" "unknown" "NC_000007.13" "UD_136060584945" "" "https://www.LOVD.nl/FASTK" "" "1" "24676" "10922" "606965" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/FASTK_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-05-06 08:56:32" "00000" "2024-02-26 20:06:56" ## 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}}" "00007743" "FASTK" "transcript variant 1" "003" "NM_006712.4" "" "NP_006703.1" "" "" "" "-117" "1754" "1650" "150777970" "150773708" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00372038" "" "" "" "1" "" "00006" "{PMID:Singer 2021:32973354}" "" "" "" "Australia" "" "0" "" "" "" "NSW76A" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00372038" "05166" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05166 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000373266" "00372038" "1" "00006" "00006" "2021-05-06 08:53:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## 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 = 6 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000331966" "0" "50" "7" "150774120" "150774120" "subst" "0.00199717" "01804" "FASTK_000001" "g.150774120G>T" "" "" "" "FASTK(NM_001258461.1):c.1347-6C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151077033G>T" "" "VUS" "" "0000331967" "0" "50" "7" "150775948" "150775948" "subst" "0.00262148" "01804" "FASTK_000002" "g.150775948A>C" "" "" "" "FASTK(NM_006712.4):c.666T>G (p.(His222Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151078861A>C" "" "VUS" "" "0000331968" "0" "30" "7" "150778647" "150778647" "subst" "0" "01804" "TMUB1_000001" "g.150778647A>G" "" "" "" "TMUB1(NM_001136044.1):c.730T>C (p.(Tyr244His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151081560A>G" "" "likely benign" "" "0000678033" "0" "50" "7" "150772592" "150772592" "subst" "0" "01943" "FASTK_000003" "g.150772592G>A" "" "" "" "SLC4A2(NM_001199692.2):c.3298G>A (p.V1100M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000783235" "0" "90" "7" "149665917" "150777829" "del" "0" "00006" "FASTK_000004" "g.149665917_150777829del" "" "{PMID:Singer 2021:32973354}" "" "" "795kb deletion incl. KCNH2, 5\' breakpoint in ACTR3C gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000964495" "0" "10" "7" "150773255" "150773255" "subst" "0.00927164" "02329" "FASTK_000005" "g.150773255C>T" "" "" "" "SLC4A2(NM_001199692.3):c.3627C>T (p.T1209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes FASTK ## Count = 6 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000331966" "00007743" "50" "1428" "-6" "1428" "-6" "c.1428-6C>A" "r.(=)" "p.(=)" "" "0000331967" "00007743" "50" "666" "0" "666" "0" "c.666T>G" "r.(?)" "p.(His222Gln)" "" "0000331968" "00007743" "30" "-794" "0" "-794" "0" "c.-794T>C" "r.(?)" "p.(=)" "" "0000678033" "00007743" "50" "2870" "0" "2870" "0" "c.*1220C>T" "r.(=)" "p.(=)" "" "0000783235" "00007743" "90" "0" "0" "0" "0" "c.25_*104{0}" "r.?" "p.?" "1_10_" "0000964495" "00007743" "10" "2207" "0" "2207" "0" "c.*557G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000373266" "0000783235"