### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRDM1) # 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}}" "PRDM1" "PR domain containing 1, with ZNF domain" "6" "q21" "unknown" "NG_029115.1" "UD_132118382900" "" "https://www.LOVD.nl/PRDM1" "" "1" "9346" "639" "603423" "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/PRDM1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-05-22 21:15:49" "00006" "2026-02-06 11:55:49" ## 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}}" "00016773" "PRDM1" "transcript variant 1" "001" "NM_001198.3" "" "NP_001189.2" "" "" "" "-234" "4931" "2478" "106534195" "106557814" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00293946" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374057" "" "" "" "1" "" "00006" "{PMID:Shaheen 2015:25713110}" "" "" "" "" "" "0" "" "" "" "patient" "00472235" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "F" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00293946" "00198" "00374057" "00198" "00472235" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 2 "{{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}}" "0000269266" "00198" "00374057" "00006" "Isolated (sporadic)" "" "1d-heart murmur; ECG-situs solitus, levocardia, truncus arteriosus type 2 with single large ventricular septal defect with over-riding aorta, truncal valve was quadri-leaflet and dysplastic, pulmonary artery branches arose separately from ascending aorta, aortic arch left sided with normal branching pattern and no obstruction" "" "" "" "" "" "" "" "" "" "truncus arteriosus" "" "0000357044" "00198" "00472235" "04653" "Isolated (sporadic)" "" "Hypsarrhythmia, Infantile spasms, Intellectual disability, moderate, Muscular dystrophy, Abnormal ear morphology" "" "" "" "" "" "" "" "" "" "Congenital myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295114" "00293946" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375289" "00374057" "1" "00006" "00006" "2021-05-22 21:11:01" "" "" "arraySNP" "DNA" "" "" "0000473905" "00472235" "1" "04653" "04653" "2026-01-19 16:01:41" "" "" "SEQ-NG-I" "DNA" "" "WGS" ## 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 = 10 "{{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}}" "0000526574" "0" "50" "6" "106553249" "106553249" "subst" "8.13187E-6" "02325" "PRDM1_000002" "g.106553249C>T" "" "" "" "PRDM1(NM_001198.4):c.1214C>T (p.S405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106105374C>T" "" "VUS" "" "0000651803" "1" "50" "6" "106553096" "106553096" "subst" "0.0110542" "03575" "PRDM1_000003" "g.106553096G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 3 heterozygous, no homozygous; {DB:CLININrs143040512}" "Germline" "" "rs143040512" "0" "" "" "g.106105221G>A" "" "VUS" "" "0000720612" "0" "50" "6" "106553512" "106553512" "subst" "0" "02325" "PRDM1_000004" "g.106553512C>G" "" "" "" "PRDM1(NM_001198.4):c.1477C>G (p.H493D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786630" "0" "90" "6" "106082956" "107737955" "del" "0" "00006" "PRDM1_000005" "g.106082956_107737955del" "" "{PMID:Shaheen 2015:25713110}" "" "" "1645 kb deletion incl. PRDM1, ATG5, AIM1, RTN4IP1, QRSL1, C6orf203, BEND3, PDSS2" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000860055" "0" "30" "6" "106536188" "106536188" "subst" "3.24844E-5" "01943" "PRDM1_000006" "g.106536188C>A" "" "" "" "PRDM1(NM_001198.3):c.155C>A (p.A52D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886970" "0" "50" "6" "106555024" "106555024" "subst" "0.000207132" "02325" "PRDM1_000007" "g.106555024C>T" "" "" "" "PRDM1(NM_001198.4):c.2141C>T (p.P714L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924400" "0" "30" "6" "106543549" "106543549" "subst" "0.000767756" "02325" "PRDM1_000008" "g.106543549A>G" "" "" "" "PRDM1(NM_001198.4):c.351A>G (p.I117M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025147" "0" "50" "6" "106553045" "106553045" "subst" "0.000167529" "02325" "PRDM1_000009" "g.106553045C>A" "" "" "" "PRDM1(NM_001198.4):c.1010C>A (p.P337H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025148" "0" "50" "6" "106553629" "106553629" "subst" "2.85228E-5" "02325" "PRDM1_000010" "g.106553629A>C" "" "" "" "PRDM1(NM_001198.4):c.1594A>C (p.K532Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062866" "0" "50" "6" "106553077" "106553077" "subst" "0" "04653" "PRDM1_000011" "g.106553077A>T" "" "Verebi et al. (submitted)" "" "" "" "De novo" "" "" "0" "" "" "g.106105202A>T" "" "VUS" "ACMG" ## 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 PRDM1 ## Count = 10 "{{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}}" "0000526574" "00016773" "50" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Ser405Leu)" "" "0000651803" "00016773" "50" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.(Ser354Asn)" "" "0000720612" "00016773" "50" "1477" "0" "1477" "0" "c.1477C>G" "r.(?)" "p.(His493Asp)" "" "0000786630" "00016773" "90" "0" "0" "0" "0" "c.-234_*2453{0}" "r.0" "p.0" "_1_7_" "0000860055" "00016773" "30" "155" "0" "155" "0" "c.155C>A" "r.(?)" "p.(Ala52Asp)" "" "0000886970" "00016773" "50" "2141" "0" "2141" "0" "c.2141C>T" "r.(?)" "p.(Pro714Leu)" "" "0000924400" "00016773" "30" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(Ile117Met)" "" "0001025147" "00016773" "50" "1010" "0" "1010" "0" "c.1010C>A" "r.(?)" "p.(Pro337His)" "" "0001025148" "00016773" "50" "1594" "0" "1594" "0" "c.1594A>C" "r.(?)" "p.(Lys532Gln)" "" "0001062866" "00016773" "50" "1042" "0" "1042" "0" "c.1042A>T" "r.(?)" "p.(Lys348Ter)" "5" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000295114" "0000651803" "0000375289" "0000786630" "0000473905" "0001062866"