### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MRPS22) # 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}}" "MRPS22" "mitochondrial ribosomal protein S22" "3" "q23" "unknown" "NG_012174.1" "UD_132118704259" "" "https://www.LOVD.nl/MRPS22" "" "1" "14508" "56945" "605810" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MRPS22_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-01-08 11:44:22" "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}}" "00013908" "MRPS22" "mitochondrial ribosomal protein S22" "001" "NM_020191.2" "" "NP_064576.1" "" "" "" "-8" "1115" "1083" "139062861" "139075888" "" "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" "03048" "COXPD5" "combined oxidative phosphorylation deficiency, type 5 (COXPD-5)" "AR" "611719" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06581" "ODG7" "Ovarian dysgenesis 7" "AR" "618117" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MRPS22" "00139" "MRPS22" "03048" "MRPS22" "06581" ## 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}}" "00095093" "" "" "" "1" "" "01586" "" "" "" "no" "" "" "0" "" "" "" "" "00164760" "" "" "" "3" "" "00006" "{PMID:Saada 2007:17873122}" "2-generation family, 3 affected sisters, unaffected carrier parents (first cousins)" "F" "yes" "Israel" "" "0" "" "" "" "17873122-Fam" "00164761" "" "" "" "1" "" "00006" "{PMID:Smits 2011:21189481}" "2-generation family, 1 affected, unaffected carrier parents (first-grade relatives)" "M" "yes" "Pakistan" "" "0" "" "" "" "21189481-Pat" "00164762" "" "" "" "1" "" "00006" "{PMID:Baertling 2015:25663021}" "2-generation family, 1 affected, unaffected carrier parents (first-grade consanguineous)" "M" "yes" "Turkey" "" "0" "" "" "" "25663021-Pat" "00301407" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00095093" "03048" "00164760" "00198" "00164761" "00198" "00164762" "00198" "00301407" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03048, 06581 ## 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}}" "0000073487" "03048" "00095093" "01586" "Familial, autosomal recessive" "" "Agenesis of corpus callosum, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Low-set ears" "" "" "" "" "" "" "" "" "" "" "" "0000129778" "00198" "00164760" "00006" "Familial, autosomal recessive" "" "see paper; ..., antenatal skin oedema, hypotonia, cardiomyopathy, tubulopathy" "" "" "" "" "" "" "" "" "COXPD-5" "" "" "0000129779" "00198" "00164761" "00006" "Familial, autosomal recessive" "" "see paper; ..., Cornelia de Lange-like dysmorphic features, brain abnormalities, hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "COXPD-5" "Cornelia de Lange-like" "" "0000129780" "00198" "00164762" "00006" "Familial, autosomal recessive" "" "see paper; ..., fatal neonatal lactic acidosis, brain and heart abnormalities" "" "" "" "" "" "" "" "" "COXPD-5" "" "" "0000228585" "00198" "00301407" "01807" "Unknown" "" "Strabismus (HP:0000486); Abnormality of the optic nerve (HP:0000587); Ataxia (HP:0001251); Global developmental delay (HP:0001263); Failure to thrive (HP:0001508); Lower limb spasticity (HP:0002061); Intention tremor (HP:0002080); Limb dystonia (HP:0002451); Increased CSF lactate (HP:0002490); Bilateral basal ganglia lesions (HP:0007146); Feeding difficulties (HP:0011968)" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000095492" "00095093" "1" "01586" "01586" "2017-01-06 11:08:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165626" "00164760" "1" "00006" "00006" "2018-06-08 11:02:03" "00006" "2018-06-08 11:04:19" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000165627" "00164761" "1" "00006" "00006" "2018-06-08 11:09:05" "" "" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000165628" "00164762" "1" "00006" "00006" "2018-06-08 11:15:40" "" "" "SEQ" "DNA" "" "WES" "0000302528" "00301407" "1" "01807" "01807" "2020-05-15 11:34:01" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000165626" "MRPS22" "0000165627" "MRPS22" "0000165628" "MRPS22" ## 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}}" "0000154053" "21" "90" "3" "139071635" "139071635" "subst" "3.25911E-5" "01586" "MRPS22_000002" "g.139071635G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.139352793G>T" "" "pathogenic" "" "0000154054" "11" "70" "3" "139069025" "139069025" "subst" "7.72408E-5" "01586" "MRPS22_000001" "g.139069025G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.139350183G>A" "" "likely pathogenic" "" "0000282580" "0" "30" "3" "139074528" "139074528" "subst" "9.75356E-5" "02325" "COPB2_000004" "g.139074528G>A" "" "" "" "MRPS22(NM_020191.4):c.883G>A (p.D295N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139355686G>A" "" "likely benign" "" "0000291986" "0" "50" "3" "139069024" "139069024" "subst" "8.13187E-6" "01943" "MRPS22_000003" "g.139069024C>T" "" "" "" "MRPS22(NM_020191.3):c.508C>T (p.R170C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139350182C>T" "" "VUS" "" "0000369358" "3" "90" "3" "139069025" "139069025" "subst" "7.72408E-5" "00006" "MRPS22_000001" "g.139069025G>A" "" "{PMID:Saada 2007:17873122}" "" "" "homozygosity mapping" "Germline" "yes" "" "0" "" "" "g.139350183G>A" "" "pathogenic" "" "0000369359" "3" "90" "3" "139069160" "139069160" "subst" "0" "00006" "MRPS22_000005" "g.139069160T>C" "" "{PMID:Smits 2011:21189481}" "" "" "homozygosity mapping" "Germline" "" "" "0" "" "" "g.139350318T>C" "" "pathogenic" "" "0000369360" "3" "90" "3" "139075805" "139075808" "dup" "0" "00006" "MRPS22_000006" "g.139075805_139075808dup" "" "{PMID:Baertling 2015:25663021}" "" "" "" "Germline" "" "" "0" "" "" "g.139356963_139356966dup" "" "pathogenic" "" "0000518071" "0" "50" "3" "139067175" "139067176" "del" "0" "01804" "MRPS22_000008" "g.139067175_139067176del" "" "" "" "MRPS22(NM_020191.2):c.504+6_504+7del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139348333_139348334del" "" "VUS" "" "0000518072" "0" "50" "3" "139069087" "139069087" "subst" "1.21862E-5" "01804" "MRPS22_000009" "g.139069087C>T" "" "" "" "MRPS22(NM_020191.2):c.571C>T (p.(Arg191Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139350245C>T" "" "VUS" "" "0000665818" "0" "90" "3" "139071635" "139071635" "subst" "3.25911E-5" "01807" "MRPS22_000002" "g.139071635G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.139352793G>T" "" "pathogenic" "" "0000719220" "0" "30" "3" "139071522" "139071522" "subst" "4.06488E-5" "01943" "COPB2_000005" "g.139071522C>T" "" "" "" "MRPS22(NM_020191.3):c.766C>T (p.R256C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719221" "0" "50" "3" "139071543" "139071543" "subst" "0.000386129" "01943" "COPB2_000006" "g.139071543C>T" "" "" "" "MRPS22(NM_020191.3):c.787C>T (p.R263C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850152" "0" "30" "3" "139062884" "139062884" "subst" "0" "01943" "MRPS22_000010" "g.139062884A>G" "" "" "" "MRPS22(NM_020191.3):c.16A>G (p.T6A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850153" "0" "50" "3" "139063020" "139063020" "subst" "1.25718E-5" "01943" "MRPS22_000011" "g.139063020G>T" "" "" "" "MRPS22(NM_020191.3):c.152G>T (p.R51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993332" "0" "30" "3" "139069133" "139069133" "subst" "0.00175048" "01804" "MRPS22_000012" "g.139069133C>T" "" "" "" "MRPS22(NM_020191.2):c.617C>T (p.(Thr206Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013821" "0" "50" "3" "139077636" "139077636" "subst" "0" "02325" "COPB2_000017" "g.139077636C>T" "" "" "" "COPB2(NM_004766.3):c.2503G>A (p.V835I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033722" "0" "30" "3" "139063049" "139063049" "subst" "0" "01804" "MRPS22_000013" "g.139063049C>T" "" "" "" "MRPS22(NM_020191.4):c.172+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033723" "0" "50" "3" "139077089" "139077091" "del" "0" "01804" "COPB2_000018" "g.139077089_139077091del" "" "" "" "COPB2(NM_004766.3):c.2578_2580del (p.(Pro860del))" "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 MRPS22 ## 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}}" "0000154053" "00013908" "90" "878" "1" "878" "1" "c.878+1G>T" "r.spl" "p.?" "6i" "0000154054" "00013908" "70" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "4" "0000282580" "00013908" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Asp295Asn)" "" "0000291986" "00013908" "50" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Cys)" "" "0000369358" "00013908" "90" "509" "0" "509" "0" "c.509G>A" "r.509g>a" "p.Arg170His" "4" "0000369359" "00013908" "90" "644" "0" "644" "0" "c.644T>C" "r.u>c" "p.Leu215Pro" "4" "0000369360" "00013908" "90" "1032" "0" "1035" "0" "c.1032_1035dup" "r.(?)" "p.(Leu346Asnfs*21)" "8" "0000518071" "00013908" "50" "504" "9" "504" "10" "c.504+9_504+10del" "r.(=)" "p.(=)" "" "0000518072" "00013908" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Ter)" "" "0000665818" "00013908" "90" "878" "1" "878" "1" "c.878+1G>T" "r.spl" "p.?" "" "0000719220" "00013908" "30" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Cys)" "" "0000719221" "00013908" "50" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263Cys)" "" "0000850152" "00013908" "30" "16" "0" "16" "0" "c.16A>G" "r.(?)" "p.(Thr6Ala)" "" "0000850153" "00013908" "50" "152" "0" "152" "0" "c.152G>T" "r.(?)" "p.(Arg51Leu)" "" "0000993332" "00013908" "30" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Thr206Ile)" "" "0001013821" "00013908" "50" "2863" "0" "2863" "0" "c.*1780C>T" "r.(=)" "p.(=)" "" "0001033722" "00013908" "30" "172" "9" "172" "9" "c.172+9C>T" "r.(=)" "p.(=)" "" "0001033723" "00013908" "50" "2316" "0" "2318" "0" "c.*1233_*1235del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000095492" "0000154053" "0000095492" "0000154054" "0000165626" "0000369358" "0000165627" "0000369359" "0000165628" "0000369360" "0000302528" "0000665818"