### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TP53RK) # 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}}" "TP53RK" "TP53 regulating kinase" "20" "q13.2" "unknown" "NC_000020.10" "UD_136094765602" "" "https://www.LOVD.nl/TP53RK" "" "1" "16197" "112858" "608679" "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/TP53RK_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-06 09:56:05" "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}}" "00021665" "TP53RK" "TP53 regulating kinase" "001" "NM_033550.3" "" "NP_291028.3" "" "" "" "-223" "3150" "762" "45318276" "45313004" "" "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" "06513" "GAMOS4" "Galloway-Mowat syndrome 4" "AR" "617730" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TP53RK" "06513" ## 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}}" "00431207" "" "" "" "1" "" "04459" "{PMID:Chen 2023:36873107}" "" "M" "no" "China" "" "" "" "" "" "Pat1" "00431208" "" "" "" "1" "" "04459" "{PMID:Chen 2023:36873107}" "" "M" "no" "China" "" "" "" "" "" "Pat2" "00431209" "" "" "" "1" "" "04459" "{PMID:Chen 2023:36873107}" "" "F" "" "China" "" "" "" "" "" "Pat3" "00431274" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "F" "yes" "Morocco" "3y" "0" "" "" "" "N2194" "00431275" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "F" "yes" "Thailand" "" "0" "" "" "" "N2984" "00431286" "" "" "" "2" "" "00006" "{PMID:Braun 2017:28805828}" "family, 2 affected sibs" "M" "yes" "South Africa;India" "11m" "0" "" "" "Europe" "B77-21" "00431287" "" "" "00431286" "1" "" "00006" "{PMID:Braun 2017:28805828}" "sib" "F" "yes" "South Africa;India" "2m15d" "0" "" "" "" "B77-22" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00431207" "06513" "00431208" "06513" "00431209" "06513" "00431274" "00399" "00431275" "00399" "00431286" "00399" "00431287" "00399" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00399, 06513 ## 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}}" "0000321874" "00399" "00431274" "00006" "Familial, autosomal recessive" "3y" "10m-proteinuria; 3y-end stage renal disease; 3y-died; primary microcephaly, developmental delay, hypotonia; MRI cranial bilateral myelination defects vision/hearing: reduced visual evoked potential; nephrotic syndrome" "" "" "" "" "" "" "" "GAMOS4" "nephrotic syndrome" "0000321875" "00399" "00431275" "00006" "Familial, autosomal recessive" "" "1y-proteinuria; 2y6m-died; primary microcephaly, developmental delay; MRI cranial cerebral atrophy; large and protruding ears, hypertelorism; nephrotic syndrome" "" "" "" "" "" "" "" "GAMOS4" "nephrotic syndrome" "0000321886" "00399" "00431286" "00006" "Familial, autosomal recessive" "11m" "2m-end stage renal disease; 11m-died; biopsy 1y-focal segmental glomerulosclerosis; primary microcephaly, seizures, developmental delay, speech delay, cognitive impairment, hypotonia, spasticity; MRI cranial polymicrogyria; plagiocephaly and prominent glabella, large ears skeletal: short stature, tapered fingers; feeding difficulties, multiple hypo and hyper- pigmented macules over the abdomen and limbs. primary microcephaly, seizures, hypotonia; MRI cranial cerebellar hypoplasia, polymicrogyria; dysmorphism; congenital nephrotic syndrome" "" "" "" "" "" "" "" "GAMOS4" "nephrotic syndrome" "0000321887" "00399" "00431287" "00006" "Familial, autosomal recessive" "2m15d" "2m-proteinuria; 2.5m-died; biopsy diffuse mesangial sclerosis; primary microcephaly, seizures, developmental delay, speech delay, cognitive impairment, hypotonia, spasticity; MRI cranial polymicrogyria; plagiocephaly and prominent glabella, large ears skeletal: short stature, tapered fingers; feeding difficulties, multiple hypo and hyper- pigmented macules over the abdomen and limbs. primary microcephaly, seizures, hypotonia; MRI cranial cerebellar hypoplasia, polymicrogyria; dysmorphism.; congenital nephrotic syndrome congenital nephrotic syndrome" "" "" "" "" "" "" "" "GAMOS4" "nephrotic syndrome" ## 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}}" "0000432621" "00431207" "1" "04459" "04459" "2023-02-02 02:34:37" "" "" "SEQ-NG" "DNA" "" "" "0000432622" "00431208" "1" "04459" "04459" "2023-02-02 02:50:48" "" "" "SEQ-NG" "DNA" "" "" "0000432623" "00431209" "1" "04459" "04459" "2023-02-02 02:58:07" "" "" "SEQ-NG" "DNA" "" "" "0000432686" "00431274" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432687" "00431275" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432698" "00431286" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432699" "00431287" "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 = 3 "{{screeningid}}" "{{geneid}}" "0000432621" "TP53RK" "0000432622" "TP53RK" "0000432623" "TP53RK" ## 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 = 18 "{{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}}" "0000340105" "0" "10" "20" "45194904" "45194904" "subst" "0.143145" "02327" "SLC13A3_000001" "g.45194904C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46566265C>G" "" "benign" "" "0000855857" "0" "10" "20" "45315750" "45315750" "subst" "0.00183558" "02326" "SLC13A3_000002" "g.45315750G>A" "" "" "" "TP53RK(NM_033550.4):c.404C>T (p.T135I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895351" "0" "30" "20" "45318031" "45318031" "subst" "0.00270181" "02326" "SLC13A3_000003" "g.45318031G>A" "" "" "" "TP53RK(NM_033550.4):c.23C>T (p.T8M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915391" "0" "30" "20" "45315721" "45315721" "subst" "0.000755299" "02326" "SLC13A3_000004" "g.45315721T>C" "" "" "" "TP53RK(NM_033550.4):c.433A>G (p.T145A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918160" "21" "90" "20" "45318040" "45318041" "dup" "0" "04459" "TP53RK_000002" "g.45318040_45318041dup" "" "{PMID:Chen 2023:36873107}" "" "" "" "Germline" "" "" "0" "" "" "g.46689401_46689402dup" "" "pathogenic" "ACMG" "0000918161" "11" "70" "20" "45315409" "45315409" "subst" "0" "04459" "TP53RK_000001" "g.45315409T>C" "" "{PMID:Chen 2023:36873107}" "" "" "" "Germline" "" "" "0" "" "" "g.46686770T>C" "" "likely pathogenic" "" "0000918162" "21" "70" "20" "45317869" "45317869" "subst" "0" "04459" "TP53RK_000003" "g.45317869C>T" "" "{PMID:Chen 2023:36873107}" "" "" "" "Germline" "" "" "0" "" "" "g.46689230C>T" "" "likely pathogenic" "" "0000918163" "11" "90" "20" "45318040" "45318041" "dup" "0" "04459" "TP53RK_000002" "g.45318040_45318041dup" "" "{PMID:Chen 2023:36873107}" "" "" "" "Germline" "" "" "0" "" "" "g.46689401_46689402dup" "" "pathogenic" "" "0000918164" "21" "90" "20" "45318040" "45318041" "dup" "0" "04459" "TP53RK_000002" "g.45318040_45318041dup" "" "{PMID:Chen 2023:36873107}" "" "" "" "Germline" "" "" "0" "" "" "g.46689401_46689402dup" "" "pathogenic" "ACMG" "0000918165" "0" "70" "20" "45315819" "45315819" "subst" "4.07106E-6" "04459" "TP53RK_000004" "g.45315819T>C" "" "{PMID:Chen 2023:36873107}" "" "" "" "Germline" "" "" "0" "" "" "g.46687180T>C" "" "likely pathogenic" "" "0000918243" "3" "70" "20" "45315426" "45315426" "subst" "0" "00006" "TP53RK_000005" "g.45315426C>A" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.46686787C>A" "" "likely pathogenic (recessive)" "" "0000918244" "3" "70" "20" "45317929" "45317929" "subst" "0" "00006" "TP53RK_000008" "g.45317929C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.46689290C>T" "" "likely pathogenic (recessive)" "" "0000918255" "21" "70" "20" "45317876" "45317876" "del" "0" "00006" "TP53RK_000007" "g.45317876del" "" "{PMID:Braun 2017:28805828}" "" "c.179delA" "" "Germline" "" "" "0" "" "" "g.46689237del" "" "likely pathogenic (recessive)" "" "0000918256" "21" "70" "20" "45317876" "45317876" "del" "0" "00006" "TP53RK_000007" "g.45317876del" "" "{PMID:Braun 2017:28805828}" "" "c.179delA" "" "Germline" "" "" "0" "" "" "g.46689237del" "" "likely pathogenic (recessive)" "" "0000918269" "11" "70" "20" "45317812" "45317812" "subst" "0" "00006" "TP53RK_000006" "g.45317812G>C" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.46689173G>C" "" "likely pathogenic (recessive)" "" "0000918270" "11" "70" "20" "45317812" "45317812" "subst" "0" "00006" "TP53RK_000006" "g.45317812G>C" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.46689173G>C" "" "likely pathogenic (recessive)" "" "0000983825" "0" "50" "20" "45221144" "45221144" "subst" "1.62481E-5" "01804" "SLC13A3_000005" "g.45221144C>T" "" "" "" "SLC13A3(NM_022829.6):c.819G>A (p.(Val273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043378" "0" "50" "20" "45212284" "45212284" "subst" "0.000101537" "01804" "SLC13A3_000006" "g.45212284G>A" "" "" "" "SLC13A3(NM_022829.6):c.1146C>T (p.(Gly382=))" "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 TP53RK ## Count = 18 "{{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}}" "0000340105" "00021665" "10" "121250" "0" "121250" "0" "c.*120488G>C" "r.(=)" "p.(=)" "" "0000855857" "00021665" "10" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Ile)" "" "0000895351" "00021665" "30" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Thr8Met)" "" "0000915391" "00021665" "30" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Thr145Ala)" "" "0000918160" "00021665" "90" "15" "0" "16" "0" "c.15_16dup" "r.(?)" "p.(Ala6Glufs*29)" "" "0000918161" "00021665" "70" "745" "0" "745" "0" "c.745A>G" "r.(?)" "p.(Arg249Gly)" "" "0000918162" "00021665" "70" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62His)" "" "0000918163" "00021665" "90" "15" "0" "16" "0" "c.15_16dup" "r.(?)" "p.(Ala6Glufs*29)" "" "0000918164" "00021665" "90" "15" "0" "16" "0" "c.15_16dup" "r.(?)" "p.(Ala6Glufs*29)" "" "0000918165" "00021665" "70" "335" "0" "335" "0" "c.335A>G" "r.(?)" "p.(Tyr112Cys)" "" "0000918243" "00021665" "70" "728" "0" "728" "0" "c.728G>T" "r.(?)" "p.(Arg243Leu)" "2" "0000918244" "00021665" "70" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Gly42Asp)" "1" "0000918255" "00021665" "70" "179" "0" "179" "0" "c.179del" "r.(?)" "p.(Lys60SerfsTer61)" "1" "0000918256" "00021665" "70" "179" "0" "179" "0" "c.179del" "r.(?)" "p.(Lys60SerfsTer61)" "1" "0000918269" "00021665" "70" "242" "0" "242" "0" "c.242C>G" "r.(?)" "p.(Thr81Arg)" "1" "0000918270" "00021665" "70" "242" "0" "242" "0" "c.242C>G" "r.(?)" "p.(Thr81Arg)" "1" "0000983825" "00021665" "50" "95010" "0" "95010" "0" "c.*94248G>A" "r.(=)" "p.(=)" "" "0001043378" "00021665" "50" "103870" "0" "103870" "0" "c.*103108C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000432621" "0000918160" "0000432621" "0000918161" "0000432622" "0000918162" "0000432622" "0000918163" "0000432623" "0000918164" "0000432623" "0000918165" "0000432686" "0000918243" "0000432687" "0000918244" "0000432698" "0000918255" "0000432698" "0000918269" "0000432699" "0000918256" "0000432699" "0000918270"