### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRIP13) # 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}}" "TRIP13" "thyroid hormone receptor interactor 13" "5" "p15" "unknown" "NC_000005.9" "UD_132438218943" "" "https://www.LOVD.nl/TRIP13" "" "1" "12307" "9319" "604507" "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/TRIP13_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-09 08:35:32" "00000" "2025-05-05 21:14:00" ## 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}}" "00021874" "TRIP13" "transcript variant 1" "001" "NM_004237.3" "" "NP_004228.1" "" "" "" "-145" "2245" "1299" "892969" "918164" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "05766" "MVA3" "mosaic variegated aneuploidy syndrome, type 3 (MVA3)" "AR" "617598" "" "" "" "00006" "2020-06-09 08:59:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TRIP13" "05766" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00303258" "" "" "" "1" "" "00006" "{PMID:Zhang 2020:32473092}, {DOI:Zhang 2020:10.1016/j.ajhg.2020.05.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "" "yes" "China" "" "0" "" "" "" "Fam1" "00303259" "" "" "" "1" "" "00006" "{PMID:Zhang 2020:32473092}, {DOI:Zhang 2020:10.1016/j.ajhg.2020.05.001}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "" "" "China" "" "0" "" "" "" "Fam2" "00303260" "" "" "" "1" "" "00006" "{PMID:Zhang 2020:32473092}, {DOI:Zhang 2020:10.1016/j.ajhg.2020.05.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "" "" "China" "" "0" "" "" "" "Fam3" "00303261" "" "" "" "1" "" "00006" "{PMID:Zhang 2020:32473092}, {DOI:Zhang 2020:10.1016/j.ajhg.2020.05.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "" "" "China" "" "0" "" "" "" "Fam4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00303258" "05370" "00303259" "05370" "00303260" "05370" "00303261" "05370" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05370, 05766 ## Count = 4 "{{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}}" "0000230341" "05370" "00303258" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "female infertility" "0000230342" "05370" "00303259" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "female infertility" "0000230343" "05370" "00303260" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "female infertility" "0000230344" "05370" "00303261" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "female infertility" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304382" "00303258" "1" "00006" "00006" "2020-06-09 08:50:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304383" "00303259" "1" "00006" "00006" "2020-06-09 08:50:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304384" "00303260" "1" "00006" "00006" "2020-06-09 08:50:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304385" "00303261" "1" "00006" "00006" "2020-06-09 08:50:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000304382" "TRIP13" "0000304383" "TRIP13" "0000304384" "TRIP13" "0000304385" "TRIP13" ## 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 = 21 "{{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}}" "0000526475" "0" "50" "5" "908175" "908175" "subst" "1.21819E-5" "01804" "BRD9_000001" "g.908175G>A" "" "" "" "TRIP13(NM_001166260.1):c.745G>A (p.(Val249Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.908060G>A" "" "VUS" "" "0000526476" "0" "70" "5" "908491" "908491" "subst" "0" "02327" "BRD9_000002" "g.908491C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.908376C>T" "" "likely pathogenic" "" "0000667819" "3" "90" "5" "893190" "893190" "subst" "0" "00006" "TRIP13_000003" "g.893190A>G" "" "{PMID:Zhang 2020:32473092}, {DOI:Zhang 2020:10.1016/j.ajhg.2020.05.001}" "" "" "" "Germline" "" "" "0" "" "" "g.893075A>G" "" "pathogenic (recessive)" "" "0000667820" "3" "90" "5" "893190" "893190" "subst" "0" "00006" "TRIP13_000003" "g.893190A>G" "" "{PMID:Zhang 2020:32473092}, {DOI:Zhang 2020:10.1016/j.ajhg.2020.05.001}" "" "" "" "Germline" "" "" "0" "" "" "g.893075A>G" "" "pathogenic (recessive)" "" "0000667821" "11" "90" "5" "901529" "901529" "subst" "8.12275E-6" "00006" "TRIP13_000004" "g.901529G>A" "" "{PMID:Zhang 2020:32473092}, {DOI:Zhang 2020:10.1016/j.ajhg.2020.05.001}" "" "" "" "Germline" "" "" "0" "" "" "g.901414G>A" "" "pathogenic (recessive)" "" "0000667822" "11" "90" "5" "904319" "904319" "subst" "0" "00006" "TRIP13_000005" "g.904319A>G" "" "{PMID:Zhang 2020:32473092}, {DOI:Zhang 2020:10.1016/j.ajhg.2020.05.001}" "" "" "" "Germline" "" "" "0" "" "" "g.904204A>G" "" "pathogenic (recessive)" "" "0000667823" "21" "90" "5" "911998" "911998" "subst" "1.62864E-5" "00006" "TRIP13_000001" "g.911998G>A" "" "{PMID:Zhang 2020:32473092}, {DOI:Zhang 2020:10.1016/j.ajhg.2020.05.001}" "" "" "" "Germline" "" "" "0" "" "" "g.911883G>A" "" "pathogenic (recessive)" "" "0000667824" "21" "90" "5" "908169" "908169" "subst" "0" "00006" "TRIP13_000002" "g.908169G>A" "" "{PMID:Zhang 2020:32473092}, {DOI:Zhang 2020:10.1016/j.ajhg.2020.05.001}" "" "" "" "Germline" "" "" "0" "" "" "g.908054G>A" "" "pathogenic (recessive)" "" "0000850978" "0" "10" "5" "893221" "893221" "subst" "0.00828382" "02329" "BRD9_000003" "g.893221C>T" "" "" "" "TRIP13(NM_004237.4):c.92+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860032" "0" "10" "5" "908588" "908588" "subst" "0.0366961" "02329" "BRD9_000004" "g.908588A>G" "" "" "" "TRIP13(NM_004237.4):c.866+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860033" "0" "10" "5" "908596" "908596" "subst" "0.0367058" "02329" "BRD9_000005" "g.908596A>G" "" "" "" "TRIP13(NM_004237.4):c.866+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860034" "0" "10" "5" "914664" "914664" "subst" "0.0367994" "02329" "BRD9_000006" "g.914664T>C" "" "" "" "TRIP13(NM_004237.4):c.1105T>C (p.L369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886943" "0" "10" "5" "901553" "901553" "subst" "0.0026283" "02326" "BRD9_000007" "g.901553T>C" "" "" "" "TRIP13(NM_004237.4):c.535+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963734" "0" "30" "5" "904345" "904345" "subst" "3.41015E-5" "02329" "BRD9_000008" "g.904345G>A" "" "" "" "TRIP13(NM_004237.4):c.608+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963741" "0" "30" "5" "916025" "916025" "subst" "2.43661E-5" "02326" "BRD9_000009" "g.916025C>T" "" "" "" "TRIP13(NM_004237.4):c.1140C>T (p.S380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976877" "0" "30" "5" "893215" "893215" "subst" "0.000149837" "01804" "BRD9_000010" "g.893215A>G" "" "" "" "TRIP13(NM_004237.4):c.92+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976885" "0" "30" "5" "900664" "900664" "subst" "1.64787E-5" "01804" "BRD9_000011" "g.900664T>C" "" "" "" "TRIP13(NM_004237.4):c.444T>C (p.(His148=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976888" "0" "30" "5" "901451" "901451" "subst" "5.70921E-5" "01804" "BRD9_000012" "g.901451A>G" "" "" "" "TRIP13(NM_004237.4):c.445-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976889" "0" "10" "5" "901553" "901553" "subst" "0.0026283" "01804" "BRD9_000007" "g.901553T>C" "" "" "" "TRIP13(NM_004237.4):c.535+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035333" "0" "50" "5" "893195" "893195" "subst" "0" "01804" "BRD9_000013" "g.893195C>A" "" "" "" "TRIP13(NM_004237.4):c.82C>A (p.(Arg28Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035357" "0" "50" "5" "914595" "914595" "subst" "1.22114E-5" "01804" "BRD9_000014" "g.914595C>T" "" "" "" "TRIP13(NM_004237.4):c.1036C>T (p.(Pro346Ser))" "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 TRIP13 ## Count = 21 "{{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}}" "0000526475" "00021874" "50" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Val249Met)" "" "0000526476" "00021874" "70" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000667819" "00021874" "90" "77" "0" "77" "0" "c.77A>G" "r.(?)" "p.(His26Arg)" "" "0000667820" "00021874" "90" "77" "0" "77" "0" "c.77A>G" "r.(?)" "p.(His26Arg)" "" "0000667821" "00021874" "90" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173Gln)" "" "0000667822" "00021874" "90" "592" "0" "592" "0" "c.592A>G" "r.(?)" "p.(Ile198Val)" "" "0000667823" "00021874" "90" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Glu303Lys)" "" "0000667824" "00021874" "90" "739" "0" "739" "0" "c.739G>A" "r.(?)" "p.(Val247Met)" "" "0000850978" "00021874" "10" "92" "16" "92" "16" "c.92+16C>T" "r.(=)" "p.(=)" "" "0000860032" "00021874" "10" "866" "12" "866" "12" "c.866+12A>G" "r.(=)" "p.(=)" "" "0000860033" "00021874" "10" "866" "20" "866" "20" "c.866+20A>G" "r.(=)" "p.(=)" "" "0000860034" "00021874" "10" "1105" "0" "1105" "0" "c.1105T>C" "r.(?)" "p.(Leu369=)" "" "0000886943" "00021874" "10" "535" "7" "535" "7" "c.535+7T>C" "r.(=)" "p.(=)" "" "0000963734" "00021874" "30" "608" "10" "608" "10" "c.608+10G>A" "r.(=)" "p.(=)" "" "0000963741" "00021874" "30" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(=)" "" "0000976877" "00021874" "30" "92" "10" "92" "10" "c.92+10A>G" "r.(=)" "p.(=)" "" "0000976885" "00021874" "30" "444" "0" "444" "0" "c.444T>C" "r.(?)" "p.(=)" "" "0000976888" "00021874" "30" "445" "-5" "445" "-5" "c.445-5A>G" "r.spl?" "p.?" "" "0000976889" "00021874" "10" "535" "7" "535" "7" "c.535+7T>C" "r.(=)" "p.(=)" "" "0001035333" "00021874" "50" "82" "0" "82" "0" "c.82C>A" "r.(?)" "p.(Arg28Ser)" "" "0001035357" "00021874" "50" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000304382" "0000667819" "0000304383" "0000667820" "0000304384" "0000667821" "0000304384" "0000667823" "0000304385" "0000667822" "0000304385" "0000667824"