### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAJC19) # 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}}" "DNAJC19" "DnaJ (Hsp40) homolog, subfamily C, member 19" "3" "q26.33" "unknown" "NC_000003.11" "UD_132118459024" "" "https://www.LOVD.nl/DNAJC19" "" "1" "30528" "131118" "608977" "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/DNAJC19_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-25 11:42:59" "00006" "2024-09-25 11:51:01" ## 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}}" "00006571" "DNAJC19" "transcript variant 1" "004" "NM_145261.3" "" "NP_660304.1" "" "" "" "-172" "1282" "351" "180707562" "180701497" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02913" "MGCA5" "3-methylglutaconic aciduria, type V (MGCA-5)" "AR" "610198" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DNAJC19" "00139" "DNAJC19" "02913" ## 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}}" "00293286" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00419626" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20061" "00453308" "" "" "" "1" "" "00006" "{PMID:Cappi 2016:27023170}" "analysis 20 sporadic obsessive-compulsive disorder cases" "" "" "Brazil" "" "0" "" "" "" "OCD018901" "00454706" "" "" "" "1" "" "00095" "{PMID:Legati 2016:26968897}" "" "F" "" "" "" "0" "" "" "" "NGSP122" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00293286" "00198" "00419626" "00198" "00453308" "00198" "00454706" "05534" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02913, 05534 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000310907" "00198" "00419626" "02300" "Familial, autosomal recessive" "1y" "" "" "" "" "" "" "" "" "" "" "metabolic abnormality" "" "0000341971" "00198" "00453308" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "obsessive-compulsive disorder" "" "0000343334" "05534" "00454706" "00095" "Familial, autosomal recessive" "" "cardiomyopathy" "0y" "" "" "" "" "" "" "" "" "multiple RC complex defect" "" ## 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}}" "0000294454" "00293286" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000420930" "00419626" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454919" "00453308" "1" "00006" "00006" "2024-08-17 18:11:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000456319" "00454706" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "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 = 9 "{{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}}" "0000329713" "0" "50" "3" "180703710" "180703713" "del" "0" "01804" "DNAJC19_000001" "g.180703710_180703713del" "" "" "" "DNAJC19(NM_001190233.1):c.205+4_205+7del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180985922_180985925del" "" "VUS" "" "0000651143" "1" "50" "3" "180704759" "180704759" "subst" "0.000377775" "03575" "DNAJC19_000002" "g.180704759G>A" "17/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs141007488}" "Germline" "" "rs141007488" "0" "" "" "g.180986971G>A" "" "VUS" "" "0000654851" "0" "50" "3" "180705961" "180705961" "subst" "0" "02329" "DNAJC19_000003" "g.180705961C>A" "" "" "" "DNAJC19(NM_145261.4):c.55+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180988173C>A" "" "VUS" "" "0000676888" "0" "50" "3" "180702442" "180702442" "subst" "0" "01943" "DNAJC19_000004" "g.180702442G>T" "" "" "" "DNAJC19(NM_001190233.1):c.262C>A (p.Q88K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676889" "0" "30" "3" "180702494" "180702494" "subst" "0.00498589" "01943" "DNAJC19_000005" "g.180702494T>G" "" "" "" "DNAJC19(NM_001190233.1):c.210A>C (p.G70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719284" "0" "30" "3" "180705871" "180705871" "subst" "0.00472257" "01943" "DNAJC19_000006" "g.180705871C>T" "" "" "" "DNAJC19(NM_145261.3):c.69G>A (p.L23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881289" "3" "90" "3" "180705878" "180705878" "dup" "0" "02300" "DNAJC19_000007" "g.180705878dup" "" "{PMID:Marinakis 2021:34008892}" "" "c.62dupA" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.180988090dup" "" "pathogenic (recessive)" "ACMG" "0000989867" "0" "50" "3" "180703745" "180703745" "subst" "0" "00006" "DNAJC19_000008" "g.180703745T>C" "" "{PMID:Cappi 2016:27023170}" "" "R83R" "" "De novo" "" "" "0" "" "" "g.180985957T>C" "" "VUS" "" "0001008565" "3" "90" "3" "180701499" "180707562" "del" "0" "00095" "DNAJC19_000009" "g.(?_180701499)_(180707562_?)del" "" "{PMID:Legati 2016:26968897}" "" "del all exons" "" "Germline" "" "" "0" "" "" "g.(?_180983711)_(180989774_?)del" "" "pathogenic" "" ## 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 DNAJC19 ## Count = 9 "{{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}}" "0000329713" "00006571" "50" "280" "4" "280" "7" "c.280+4_280+7del" "r.spl?" "p.?" "" "0000651143" "00006571" "50" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61Trp)" "" "0000654851" "00006571" "50" "55" "5" "55" "5" "c.55+5G>T" "r.spl?" "p.?" "" "0000676888" "00006571" "50" "337" "0" "337" "0" "c.337C>A" "r.(?)" "p.(Gln113Lys)" "" "0000676889" "00006571" "30" "285" "0" "285" "0" "c.285A>C" "r.(?)" "p.(Gly95=)" "" "0000719284" "00006571" "30" "69" "0" "69" "0" "c.69G>A" "r.(?)" "p.(Leu23=)" "" "0000881289" "00006571" "90" "62" "0" "62" "0" "c.62dup" "r.(?)" "p.(Tyr21Ter)" "" "0000989867" "00006571" "50" "249" "0" "249" "0" "c.249A>G" "r.(?)" "p.(Arg83=)" "" "0001008565" "00006571" "90" "" "0" "" "0" "c.-172_*929{0}" "r.0?" "p.0?" "_1_6_" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000294454" "0000651143" "0000420930" "0000881289" "0000454919" "0000989867" "0000456319" "0001008565"