### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = USP48) # 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}}" "USP48" "ubiquitin specific peptidase 48" "1" "p36.12" "unknown" "NG_047203.1" "UD_132319032642" "" "https://www.LOVD.nl/USP48" "" "1" "18533" "84196" "0" "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/USP48_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-11 13:38:52" "00000" "2025-09-08 17:10:02" ## 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}}" "00022518" "USP48" "transcript variant 1" "001" "NM_032236.5" "" "NP_115612.4" "" "" "" "-238" "4227" "3108" "22109688" "22004791" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "USP48" "05086" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00050634" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00303378" "" "" "" "6" "" "00006" "Bassani ESHG2020 C06.2" "4-generation family, 6 affected (4F, 2M)" "" "" "Italy" "" "0" "" "" "" "family" "00303379" "" "" "" "1" "" "00006" "Bassani ESHG2020 C06.2" "" "" "" "Netherlands" "" "0" "" "" "" "Pat1" "00303380" "" "" "" "1" "" "00006" "Bassani ESHG2020 C06.2" "" "" "" "Netherlands" "" "0" "" "" "" "Pat2" "00303381" "" "" "" "1" "" "00006" "Bassani ESHG2020 C06.2" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00050634" "00198" "00303378" "05086" "00303379" "05086" "00303380" "05086" "00303381" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05086 ## Count = 5 "{{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}}" "0000037246" "00198" "00050634" "00006" "Isolated (sporadic)" "" "supraventricular tachycardia, mild short stature, clinodactyly of the 5th finger, specific learning disability" "" "" "" "" "" "" "" "" "" "" "" "0000230454" "05086" "00303378" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000230455" "05086" "00303379" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000230456" "05086" "00303380" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000230457" "05086" "00303381" "00006" "Isolated (sporadic)" "" "see paper; ..., unilateral cochlear nerve aplasia" "" "" "" "" "" "" "" "" "" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050579" "00050634" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000304504" "00303378" "1" "00006" "00006" "2020-06-11 13:51:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304505" "00303379" "1" "00006" "00006" "2020-06-11 13:51:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304506" "00303380" "1" "00006" "00006" "2020-06-11 13:51:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304507" "00303381" "1" "00006" "00006" "2020-06-11 13:51:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000304504" "USP48" "0000304505" "USP48" "0000304506" "USP48" "0000304507" "USP48" ## 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 = 12 "{{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}}" "0000079559" "0" "90" "1" "20540741" "22890410" "del" "0" "00006" "HSPG2_000007" "g.20540741_22890410del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.20214248_22563917del" "" "pathogenic" "" "0000505472" "0" "50" "1" "22030033" "22030033" "subst" "0" "01943" "USP48_000001" "g.22030033T>C" "" "" "" "USP48(NM_032236.7):c.2594A>G (p.Y865C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21703540T>C" "" "VUS" "" "0000667952" "1" "90" "1" "22056281" "22056281" "subst" "7.31535E-5" "00006" "USP48_000004" "g.22056281C>T" "" "Bassani ESHG2020 C06.2" "" "" "" "Germline" "" "" "0" "" "" "g.21729788C>T" "" "pathogenic (dominant)" "" "0000667953" "0" "70" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "Bassani ESHG2020 C06.2" "" "p.(Thr739Leu)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667954" "0" "70" "1" "22028059" "22028059" "subst" "0" "00006" "USP48_000003" "g.22028059T>C" "" "Bassani ESHG2020 C06.2" "" "p.(Ser887Gly)" "" "Unknown" "" "" "0" "" "" "g.21701566T>C" "" "pathogenic (dominant)" "" "0000667955" "0" "70" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "Bassani ESHG2020 C06.2" "" "p.(Val1020Glyext*9)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000799105" "0" "50" "1" "22030080" "22030080" "subst" "0" "02327" "USP48_000005" "g.22030080C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799117" "0" "30" "1" "22084201" "22084201" "subst" "0.0040364" "01943" "USP48_000006" "g.22084201A>G" "" "" "" "USP48(NM_032236.7):c.210T>C (p.N70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848538" "0" "30" "1" "22056243" "22056243" "subst" "0.000784196" "01943" "USP48_000008" "g.22056243A>G" "" "" "" "USP48(NM_032236.7):c.1254T>C (p.Y418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857286" "0" "30" "1" "22007292" "22007292" "subst" "5.43601E-5" "01943" "USP48_000007" "g.22007292G>C" "" "" "" "USP48(NM_032236.7):c.3085+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973641" "0" "30" "1" "22028095" "22028095" "subst" "0.000154366" "01804" "USP48_000009" "g.22028095C>T" "" "" "" "USP48(NM_032236.8):c.2623G>A (p.(Val875Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047866" "0" "50" "1" "22030114" "22030114" "subst" "0" "03779" "USP48_000010" "g.22030114T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "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 USP48 ## Count = 12 "{{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}}" "0000079559" "00022518" "00" "-780960" "0" "1468277" "0" "c.-780960_*1465169del" "r.?" "p.?" "" "0000505472" "00022518" "50" "2594" "0" "2594" "0" "c.2594A>G" "r.(?)" "p.(Tyr865Cys)" "" "0000667952" "00022518" "90" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Arg)" "" "0000667953" "00022518" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Thr739Leu)" "" "0000667954" "00022518" "70" "2659" "0" "2659" "0" "c.2659A>G" "r.(?)" "p.(Ser887Gly)" "" "0000667955" "00022518" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Val1020Glyext*9)" "" "0000799105" "00022518" "50" "2547" "0" "2547" "0" "c.2547G>T" "r.(?)" "p.(Leu849Phe)" "" "0000799117" "00022518" "30" "210" "0" "210" "0" "c.210T>C" "r.(?)" "p.(Asn70=)" "" "0000848538" "00022518" "30" "1254" "0" "1254" "0" "c.1254T>C" "r.(?)" "p.(Tyr418=)" "" "0000857286" "00022518" "30" "3085" "9" "3085" "9" "c.3085+9C>G" "r.(=)" "p.(=)" "" "0000973641" "00022518" "30" "2623" "0" "2623" "0" "c.2623G>A" "r.(?)" "p.(Val875Met)" "" "0001047866" "00022518" "50" "2516" "-3" "2516" "-3" "c.2516-3A>G" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000050579" "0000079559" "0000304504" "0000667952" "0000304505" "0000667953" "0000304506" "0000667954" "0000304507" "0000667955"