### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TPRKB) # 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}}" "TPRKB" "TP53RK binding protein" "2" "p24.3-p24.1" "unknown" "NC_000002.11" "UD_134711120358" "" "https://www.LOVD.nl/TPRKB" "" "1" "24259" "51002" "608680" "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/TPRKB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-06 17:32:29" "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}}" "00021707" "TPRKB" "TP53RK binding protein" "001" "NM_016058.2" "" "NP_057142.1" "" "" "" "-111" "641" "528" "73964517" "73956957" "" "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}}" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "06469" "GAMOS5" "Galloway-Mowat syndrome 5" "AR" "617731" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TPRKB" "06469" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00431267" "" "" "" "2" "" "00006" "{PMID:Braun 2017:28805828}" "family 2 affected (previous child of the family had" "M" "yes" "Egypt" "6y10m" "0" "" "" "" "B123" "00431269" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "M" "yes" "" "" "0" "" "" "Europe" "B1144" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00431267" "00399" "00431269" "00399" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00399, 06469 ## Count = 2 "{{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}}" "0000321867" "00399" "00431267" "00006" "Familial, autosomal recessive" "6y10m" "4.5y-proteinuria; 6y6m-end stage renal disease; 6.8y-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, global developmental delay, profound intellectual disability, spasticity; MRI cranial marked brain atrophy with prominent cortical sulci, ventriculomegaly, periventricular white matter demyelination; dysmorphism vision/hearing: deafness; deceased due to pneumonia and sepsis.; steroid resistant nephrotic syndrome; previous child had microcephaly, seizures, 7m-renal failure, 13m-died of status epilepticus." "" "" "" "" "" "" "" "GAMOS5" "nephrotic syndrome" "0000321869" "00399" "00431269" "00006" "Familial, autosomal recessive" "6y" "3.8y-proteinuria; no end stage renal disease; 6y-alive with normal renal function; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, mild intellectual disability, progressive spasticity (wheelchair bound at 5.5y), coordination disorder, ataxia; MRI cranial pachygyria, periventricular leukomalacia; elongated face, epicanthal folds, slight hypertelorism, deep-set eyes, fleshy ear lobules, prominent chin; steroid resistant nephrotic syndrome (nephrotic range proteinuria, no edema, serum albumin 3.9 g/L)" "" "" "" "" "" "" "" "GAMOS5" "nephrotic syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000432679" "00431267" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432681" "00431269" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 14 "{{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}}" "0000676719" "0" "10" "2" "73959848" "73959848" "dup" "0" "02330" "TPRKB_000001" "g.73959848dup" "" "" "" "TPRKB(NM_001330390.1):c.-34-4dupT, TPRKB(NM_016058.4):c.142-423dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000676720" "0" "10" "2" "73959848" "73959848" "dup" "0" "02326" "TPRKB_000001" "g.73959848dup" "" "" "" "TPRKB(NM_001330390.1):c.-34-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688851" "0" "10" "2" "73959849" "73959849" "subst" "0" "02326" "TPRKB_000002" "g.73959849C>A" "" "" "" "TPRKB(NM_001330390.1):c.-34-18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719058" "0" "50" "2" "73961620" "73961620" "subst" "9.75332E-5" "02329" "TPRKB_000003" "g.73961620G>A" "" "" "" "TPRKB(NM_001330386.1):c.77C>T (p.A26V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800812" "0" "10" "2" "73959848" "73959848" "del" "0" "02325" "TPRKB_000004" "g.73959848del" "" "" "" "TPRKB(NM_016058.5):c.142-423delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000800813" "0" "30" "2" "73961676" "73961676" "subst" "1.22678E-5" "02326" "TPRKB_000005" "g.73961676C>T" "" "" "" "TPRKB(NM_016058.5):c.21G>A (p.L7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850023" "0" "30" "2" "73961561" "73961561" "subst" "0.000106612" "02326" "TPRKB_000006" "g.73961561T>C" "" "" "" "TPRKB(NM_016058.5):c.136A>G (p.T46A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858700" "0" "10" "2" "73959848" "73959848" "dup" "0" "01943" "TPRKB_000001" "g.73959848dup" "" "" "" "TPRKB(NM_001330390.1):c.-34-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885393" "0" "30" "2" "73957738" "73957738" "subst" "0.000469625" "02326" "TPRKB_000007" "g.73957738C>T" "" "" "" "TPRKB(NM_016058.5):c.390G>A (p.Q130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918236" "3" "70" "2" "73957721" "73957721" "subst" "0" "00006" "TPRKB_000009" "g.73957721A>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.73730594A>G" "" "likely pathogenic (recessive)" "" "0000918238" "3" "70" "2" "73957152" "73957152" "subst" "0" "00006" "TPRKB_000008" "g.73957152T>C" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.73730025T>C" "" "likely pathogenic (recessive)" "" "0000962291" "0" "10" "2" "73959848" "73959848" "del" "0" "02329" "TPRKB_000004" "g.73959848del" "" "" "" "TPRKB(NM_016058.5):c.142-423delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962292" "0" "10" "2" "73959848" "73959848" "dup" "0" "02329" "TPRKB_000001" "g.73959848dup" "" "" "" "TPRKB(NM_001330390.1):c.-34-4dupT, TPRKB(NM_016058.5):c.142-423dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001033476" "0" "50" "2" "73959318" "73959318" "subst" "0" "01804" "TPRKB_000010" "g.73959318A>G" "" "" "" "TPRKB(NM_016058.5):c.236T>C (p.(Ile79Thr))" "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 TPRKB ## Count = 14 "{{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}}" "0000676719" "00021707" "10" "142" "-423" "142" "-423" "c.142-423dup" "r.(=)" "p.(=)" "" "0000676720" "00021707" "10" "142" "-423" "142" "-423" "c.142-423dup" "r.(=)" "p.(=)" "" "0000688851" "00021707" "10" "142" "-437" "142" "-437" "c.142-437G>T" "r.(=)" "p.(=)" "" "0000719058" "00021707" "50" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Ala26Val)" "" "0000800812" "00021707" "10" "142" "-423" "142" "-423" "c.142-423del" "r.(=)" "p.(=)" "" "0000800813" "00021707" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Leu7=)" "" "0000850023" "00021707" "30" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Thr46Ala)" "" "0000858700" "00021707" "10" "142" "-423" "142" "-423" "c.142-423dup" "r.(=)" "p.(=)" "" "0000885393" "00021707" "30" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Gln130=)" "" "0000918236" "00021707" "70" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Leu136Pro)" "4" "0000918238" "00021707" "70" "446" "0" "446" "0" "c.446A>G" "r.(?)" "p.(Tyr149Cys)" "5" "0000962291" "00021707" "10" "142" "-423" "142" "-423" "c.142-423del" "r.(=)" "p.(=)" "" "0000962292" "00021707" "10" "142" "-423" "142" "-423" "c.142-423dup" "r.(=)" "p.(=)" "" "0001033476" "00021707" "50" "236" "0" "236" "0" "c.236T>C" "r.(?)" "p.(Ile79Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000432679" "0000918236" "0000432681" "0000918238"