### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPSAP52) # 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}}" "RPSAP52" "ribosomal protein SA pseudogene 52" "12" "q14.3" "unknown" "NC_000012.11" "UD_136091490704" "" "https://www.LOVD.nl/RPSAP52" "" "1" "35752" "204010" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-02-27 16:14:08" "00000" "2025-07-08 13:22:38" ## 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}}" "00018217" "RPSAP52" "ribosomal protein SA pseudogene 52" "001" "NR_026825.2" "" "" "" "" "" "1" "1144" "1144" "66220754" "66151800" "" "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}}" "00232" "SRS;RSS" "Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))" "AD" "180860" "" "" "" "00006" "2013-10-09 19:30:21" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00154495" "" "" "" "1" "" "02397" "" "" "F" "no" "Germany" "04y" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00154495" "00232" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00232 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000127229" "00232" "00154495" "02397" "Isolated (sporadic)" "" "see paper; ..., triangular face (HP:0000325)" "" "nr" "" "" "" "" "" "delayed growth" "" "" "" "delayed" "no asymmetric growth" "SRS" "SRS" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000155354" "00154495" "1" "02397" "02397" "2018-02-27 14:59:00" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000155354" "HMGA2" ## 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 = 7 "{{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}}" "0000355074" "0" "90" "12" "66217407" "66224664" "del" "0" "02397" "HMGA2_000008" "g.66217407_66224664del" "" "" "" "" "DNA breakpoints were determined by breakpoint PCR" "De novo" "" "" "0" "" "" "g.65823627_65830884del" "" "pathogenic" "" "0000863108" "0" "50" "12" "66219056" "66219056" "subst" "0" "02327" "HMGA2_000014" "g.66219056C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863109" "0" "70" "12" "66219099" "66219099" "subst" "0" "01804" "HMGA2_000015" "g.66219099G>T" "" "" "" "HMGA2(NM_003483.4):c.49G>T (p.(Gly17*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863110" "0" "50" "12" "66219144" "66219144" "subst" "0" "02327" "HMGA2_000016" "g.66219144C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890754" "0" "50" "12" "66219057" "66219057" "subst" "0" "01804" "HMGA2_000025" "g.66219057G>C" "" "" "" "HMGA2(NM_003483.4):c.7G>C (p.(Ala3Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026227" "0" "50" "12" "66219155" "66219155" "subst" "0" "01804" "HMGA2_000035" "g.66219155G>C" "" "" "" "HMGA2(NM_003483.4):c.105G>C (p.(Gln35His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046395" "0" "50" "12" "66219105" "66219105" "subst" "0" "01804" "HMGA2_000036" "g.66219105C>T" "" "" "" "HMGA2(NM_003483.4):c.55C>T (p.(Pro19Ser))" "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 RPSAP52 ## Count = 7 "{{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}}" "0000355074" "00018217" "90" "0" "" "0" "" "n.-3910_132+3216del" "r.0?" "p.0?" "_1_1i" "0000863108" "00018217" "50" "132" "1567" "132" "1567" "n.132+1567G>T" "r.(?)" "-" "" "0000863109" "00018217" "70" "132" "1524" "132" "1524" "n.132+1524C>A" "r.(?)" "-" "" "0000863110" "00018217" "50" "132" "1479" "132" "1479" "n.132+1479G>T" "r.(?)" "-" "" "0000890754" "00018217" "50" "132" "1566" "132" "1566" "n.132+1566C>G" "r.(?)" "-" "" "0001026227" "00018217" "50" "132" "1468" "132" "1468" "n.132+1468C>G" "r.(?)" "-" "" "0001046395" "00018217" "50" "132" "1518" "132" "1518" "n.132+1518G>A" "r.(?)" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000155354" "0000355074"