### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BTRC) # 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}}" "BTRC" "beta-transducin repeat containing E3 ubiquitin protein ligase" "10" "q24.32" "unknown" "NG_009234.1" "UD_134408327121" "" "https://www.LOVD.nl/BTRC" "" "1" "1144" "8945" "603482" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/BTRC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-11 13:30:13" "00000" "2025-11-01 13:22:20" ## 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}}" "00003558" "BTRC" "transcript variant 1" "001" "NM_033637.3" "" "NP_378663.1" "" "" "" "-148" "6016" "1818" "103113790" "103317078" "" "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}}" "00947" "SHFM3" "split-hand/foot malformation, type 3, gene duplication syndrome (SHFM3)" "AD" "246560" "" "" "linked to FGF8 Cova ESHG2020 PL2.5" "00006" "2014-09-25 23:29:40" "00006" "2021-10-18 22:36:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00183243" "" "" "" "1" "" "01217" "" "" "" "" "" "" "0" "" "" "" "" "00184296" "" "" "" "1" "" "01217" "" "" "M" "" "" "" "0" "" "" "" "" "00184297" "" "" "" "1" "" "01217" "" "" "" "" "" "" "0" "" "" "" "" "00184298" "" "" "" "1" "" "01217" "" "" "" "" "" "" "0" "" "" "" "" "00184299" "" "" "" "1" "" "01217" "" "" "" "" "" "" "0" "" "" "" "" "00184300" "" "" "" "1" "" "01217" "" "" "" "" "" "" "0" "" "" "" "" "00184301" "" "" "" "1" "" "01217" "" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00183243" "00947" "00184296" "00947" "00184297" "00947" "00184298" "00947" "00184299" "00947" "00184300" "00947" "00184301" "00947" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00947 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000144428" "00947" "00184296" "01217" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000144429" "00947" "00184298" "01217" "Familial" "" "" "" "" "" "" "" "" "" "" "" "0000144430" "00947" "00184299" "01217" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000144431" "00947" "00184300" "01217" "Familial" "" "" "" "" "" "" "" "" "" "" "" "0000144432" "00947" "00184301" "01217" "Familial" "" "" "" "" "" "" "" "" "" "" "" "0000152867" "00947" "00184297" "01217" "Unknown" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184200" "00183243" "1" "01217" "01217" "2018-10-18 16:51:55" "" "" "PCRq" "DNA" "" "" "0000185263" "00184296" "1" "01217" "01217" "2018-10-29 12:34:43" "" "" "PCRq" "DNA" "" "" "0000185264" "00184297" "1" "01217" "01217" "2018-10-29 12:47:50" "" "" "PCRq" "DNA" "" "" "0000185265" "00184298" "1" "01217" "01217" "2018-10-29 12:51:15" "" "" "PCRq" "DNA" "" "" "0000185266" "00184299" "1" "01217" "01217" "2018-10-29 12:54:57" "" "" "PCRq" "DNA" "" "" "0000185267" "00184300" "1" "01217" "01217" "2018-10-29 12:57:56" "" "" "PCRq" "DNA" "" "" "0000185268" "00184301" "1" "01217" "01217" "2018-10-29 12:59:45" "" "" "PCRq" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000184200" "BTRC" "0000185263" "BTRC" "0000185264" "BTRC" "0000185265" "BTRC" "0000185266" "BTRC" "0000185267" "BTRC" "0000185268" "BTRC" ## 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 = 12 "{{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}}" "0000408200" "0" "90" "10" "103281432" "103313498" "dup" "0" "01217" "BTRC_000001" "g.(?_103281432)_(103313498_?)dup" "" "" "" "1_*4198dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000410661" "0" "70" "10" "103281432" "103313498" "dup" "0" "01217" "BTRC_000001" "g.(?_103281432)_(103313498_?)dup" "" "" "" "103281432_103313498dup" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000410662" "0" "70" "10" "103281432" "103313498" "dup" "0" "01217" "BTRC_000001" "g.(?_103281432)_(103313498_?)dup" "" "" "" "103281432_103313498dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000410663" "0" "70" "10" "103281432" "103313498" "dup" "0" "01217" "BTRC_000001" "g.(?_103281432)_(103313498_?)dup" "" "" "" "103281432_103313498dup" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000410664" "0" "70" "10" "103281432" "103313498" "dup" "0" "01217" "BTRC_000001" "g.(?_103281432)_(103313498_?)dup" "" "" "" "103281432_103313498dup" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000410665" "0" "70" "10" "103281432" "103313498" "dup" "0" "01217" "BTRC_000001" "g.(?_103281432)_(103313498_?)dup" "" "" "" "103281432_103313498dup" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000410666" "0" "70" "10" "103281432" "103313498" "dup" "0" "01217" "BTRC_000001" "g.(?_103281432)_(103313498_?)dup" "" "" "" "103281432_103313498dup" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000690634" "0" "50" "10" "103292106" "103292106" "subst" "0" "02327" "BTRC_000002" "g.103292106C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949335" "0" "30" "10" "103310574" "103310574" "subst" "0.00369218" "01804" "BTRC_000003" "g.103310574C>A" "" "" "" "BTRC(NM_001256856.1):c.1697C>A (p.(Pro566His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037683" "0" "30" "10" "103281636" "103281636" "subst" "1.22736E-5" "01804" "BTRC_000004" "g.103281636A>G" "" "" "" "BTRC(NM_033637.4):c.556+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053682" "0" "50" "10" "103292107" "103292107" "subst" "0.000105806" "01804" "BTRC_000005" "g.103292107G>A" "" "" "" "BTRC(NM_033637.4):c.896G>A (p.(Arg299Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053683" "0" "50" "10" "103294635" "103294635" "subst" "0.000320862" "01804" "BTRC_000006" "g.103294635A>G" "" "" "" "BTRC(NM_033637.4):c.1315A>G (p.(Ile439Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 BTRC ## Count = 12 "{{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}}" "0000408200" "00003558" "90" "361" "0" "2436" "0" "c.(?_361)_(*618_?)dup" "r.?" "p.?" "_5_15_" "0000410661" "00003558" "70" "361" "0" "2436" "0" "c.(?_361)_(*618_?)dup" "r.?" "p.?" "_5_15_" "0000410662" "00003558" "90" "361" "0" "2436" "0" "c.(?_361)_(*618_?)dup" "r.?" "p.?" "_5_15_" "0000410663" "00003558" "90" "361" "0" "2436" "0" "c.(?_361)_(*618_?)dup" "r.?" "p.?" "_5_15_" "0000410664" "00003558" "90" "361" "0" "2436" "0" "c.(?_361)_(*618_?)dup" "r.?" "p.?" "_5_15_" "0000410665" "00003558" "90" "361" "0" "2436" "0" "c.(?_361)_(*618_?)dup" "r.?" "p.?" "_5_15_" "0000410666" "00003558" "90" "361" "0" "2436" "0" "c.(?_361)_(*618_?)dup" "r.?" "p.?" "_5_15_" "0000690634" "00003558" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Ter)" "" "0000949335" "00003558" "30" "1775" "0" "1775" "0" "c.1775C>A" "r.(?)" "p.(Pro592His)" "" "0001037683" "00003558" "30" "556" "9" "556" "9" "c.556+9A>G" "r.(=)" "p.(=)" "" "0001053682" "00003558" "50" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "" "0001053683" "00003558" "50" "1315" "0" "1315" "0" "c.1315A>G" "r.(?)" "p.(Ile439Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000184200" "0000408200" "0000185263" "0000410661" "0000185264" "0000410662" "0000185265" "0000410663" "0000185266" "0000410664" "0000185267" "0000410665" "0000185268" "0000410666"