### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MRPS7) # 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}}" "MRPS7" "mitochondrial ribosomal protein S7" "17" "q25.1" "unknown" "NC_000017.10" "UD_136020335570" "" "https://www.LOVD.nl/MRPS7" "" "1" "14499" "51081" "611974" "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" "2018-06-06 21:07:57" "00000" "2025-11-01 13:22:20" ## 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}}" "00013895" "MRPS7" "mitochondrial ribosomal protein S7" "001" "NM_015971.3" "" "NP_057055.2" "" "" "" "-233" "1182" "729" "73257749" "73262457" "" "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" "05438" "COXPD34" "combined oxidative phosphorylation deficiency, type 34 (COXPD-34)" "AR" "617872" "" "autosomal recessive" "" "00006" "2018-06-06 21:09:58" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MRPS7" "05438" ## 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}}" "00164736" "" "" "" "2" "" "00006" "{PMID:Menezes 2015:25556185}" "2-generation family, 2 affected sisters, unaffected carrier parents" "F" "" "Austria" "" "0" "" "" "" "25556185-Fam" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00164736" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05438 ## Count = 1 "{{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}}" "0000129775" "00198" "00164736" "00006" "Familial, autosomal recessive" "" "see paper; ..., congenital sensorineural deafness, progressive hepatic and renal failure, lactic acidemia" "" "" "" "" "" "" "" "" "COXPD-34" "" "" ## 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}}" "0000165603" "00164736" "1" "00006" "00006" "2018-06-06 21:16:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000165603" "MRPS7" ## 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 = 19 "{{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}}" "0000249230" "0" "10" "17" "73269530" "73269530" "subst" "0.930635" "02325" "SLC25A19_000001" "g.73269530A>G" "" "" "" "MIF4GD-DT(NR_036520.1):n.2151A>G, SLC25A19(NM_001126121.2):c.*2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75273449A>G" "" "benign" "" "0000253289" "0" "10" "17" "73269530" "73269530" "subst" "0.930635" "01943" "SLC25A19_000001" "g.73269530A>G" "" "" "" "MIF4GD-DT(NR_036520.1):n.2151A>G, SLC25A19(NM_001126121.2):c.*2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75273449A>G" "" "benign" "" "0000298264" "0" "10" "17" "73269676" "73269676" "subst" "0.664988" "02325" "SLC25A19_000002" "g.73269676C>T" "" "" "" "MIF4GD-DT(NR_036520.1):n.2297C>T, SLC25A19(NM_001126121.2):c.819G>A (p.L273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75273595C>T" "" "benign" "" "0000308312" "0" "10" "17" "73269676" "73269676" "subst" "0.664988" "01943" "SLC25A19_000002" "g.73269676C>T" "" "" "" "MIF4GD-DT(NR_036520.1):n.2297C>T, SLC25A19(NM_001126121.2):c.819G>A (p.L273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75273595C>T" "" "benign" "" "0000369334" "3" "90" "17" "73261825" "73261825" "subst" "0.000789118" "00006" "MRPS7_000001" "g.73261825A>G" "" "{PMID:Menezes 2015:25556185}, {OMIM611974:0001}" "" "" "" "Germline" "yes" "rs115047866" "0" "" "" "g.75265744A>G" "" "pathogenic" "" "0000562987" "0" "30" "17" "73235985" "73235985" "subst" "0" "01943" "NUP85_000002" "g.73235985G>A" "" "" "" "GGA3(NM_001291641.1):c.1252C>T (p.P418S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75239904G>A" "" "likely benign" "" "0000562988" "0" "50" "17" "73263930" "73263930" "subst" "0" "01943" "MIF4GD_000001" "g.73263930C>T" "" "" "" "MIF4GD(NM_001242498.1):c.368G>A (p.R123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75267849C>T" "" "VUS" "" "0000562989" "0" "30" "17" "73269592" "73269592" "subst" "4.0627E-6" "01943" "MIF4GD_000002" "g.73269592G>A" "" "" "" "SLC25A19(NM_001126121.2):c.903C>T (p.F301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75273511G>A" "" "likely benign" "" "0000616807" "0" "50" "17" "73269698" "73269698" "subst" "0.000495899" "01943" "MIF4GD_000003" "g.73269698A>C" "" "" "" "SLC25A19(NM_001126121.2):c.797T>G (p.(Met266Arg)), SLC25A19(NM_001126122.1):c.797T>G (p.M266R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75273617A>C" "" "VUS" "" "0000658245" "0" "50" "17" "73227999" "73227999" "subst" "0" "01943" "NUP85_000004" "g.73227999C>A" "" "" "" "NUP85(NM_001303276.1):c.1183C>A (p.R395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75231904C>A" "" "VUS" "" "0000658246" "0" "50" "17" "73228000" "73228000" "subst" "0" "01943" "NUP85_000005" "g.73228000G>T" "" "" "" "NUP85(NM_001303276.1):c.1184G>T (p.R395L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75231905G>T" "" "VUS" "" "0000692459" "0" "30" "17" "73236133" "73236133" "subst" "0" "01943" "NUP85_000006" "g.73236133G>A" "" "" "" "GGA3(NM_001291641.1):c.1104C>T (p.G368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726663" "0" "30" "17" "73269653" "73269653" "subst" "0.000138082" "01943" "MIF4GD_000004" "g.73269653A>C" "" "" "" "SLC25A19(NM_001126121.2):c.842T>G (p.(Phe281Cys)), SLC25A19(NM_021734.4):c.842T>G (p.F281C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855085" "0" "30" "17" "73227910" "73227910" "subst" "2.85731E-5" "02326" "NUP85_000011" "g.73227910C>T" "" "" "" "NUP85(NM_024844.5):c.1245-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969223" "0" "30" "17" "73231284" "73231284" "subst" "0.00181846" "02326" "NUP85_000016" "g.73231284C>T" "" "" "" "NUP85(NM_024844.5):c.1857C>T (p.T619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982782" "0" "50" "17" "73269698" "73269698" "subst" "0.000495899" "01804" "MIF4GD_000003" "g.73269698A>C" "" "" "" "SLC25A19(NM_001126121.2):c.797T>G (p.(Met266Arg)), SLC25A19(NM_001126122.1):c.797T>G (p.M266R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003651" "0" "90" "17" "73231736" "73231736" "subst" "3.2486E-5" "01804" "NUP85_000017" "g.73231736C>T" "" "" "" "NUP85(NM_024844.3):c.1933C>T (p.(Arg645Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042157" "0" "50" "17" "73269653" "73269653" "subst" "0.000138082" "01804" "MIF4GD_000004" "g.73269653A>C" "" "" "" "SLC25A19(NM_001126121.2):c.842T>G (p.(Phe281Cys)), SLC25A19(NM_021734.4):c.842T>G (p.F281C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056168" "0" "50" "17" "73228948" "73228948" "subst" "9.74572E-5" "01804" "NUP85_000018" "g.73228948C>T" "" "" "" "NUP85(NM_024844.5):c.1399C>T (p.(Arg467Cys))" "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 MRPS7 ## Count = 19 "{{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}}" "0000249230" "00013895" "10" "8255" "0" "8255" "0" "c.*7526A>G" "r.(=)" "p.(=)" "" "0000253289" "00013895" "10" "8255" "0" "8255" "0" "c.*7526A>G" "r.(=)" "p.(=)" "" "0000298264" "00013895" "10" "8401" "0" "8401" "0" "c.*7672C>T" "r.(=)" "p.(=)" "" "0000308312" "00013895" "10" "8401" "0" "8401" "0" "c.*7672C>T" "r.(=)" "p.(=)" "" "0000369334" "00013895" "90" "550" "0" "550" "0" "c.550A>G" "r.(?)" "p.(Met184Val)" "" "0000562987" "00013895" "30" "-21997" "0" "-21997" "0" "c.-21997G>A" "r.(?)" "p.(=)" "" "0000562988" "00013895" "50" "2655" "0" "2655" "0" "c.*1926C>T" "r.(=)" "p.(=)" "" "0000562989" "00013895" "30" "8317" "0" "8317" "0" "c.*7588G>A" "r.(=)" "p.(=)" "" "0000616807" "00013895" "50" "8423" "0" "8423" "0" "c.*7694A>C" "r.(=)" "p.(=)" "" "0000658245" "00013895" "50" "-29983" "0" "-29983" "0" "c.-29983C>A" "r.(?)" "p.(=)" "" "0000658246" "00013895" "50" "-29982" "0" "-29982" "0" "c.-29982G>T" "r.(?)" "p.(=)" "" "0000692459" "00013895" "30" "-21849" "0" "-21849" "0" "c.-21849G>A" "r.(?)" "p.(=)" "" "0000726663" "00013895" "30" "8378" "0" "8378" "0" "c.*7649A>C" "r.(=)" "p.(=)" "" "0000855085" "00013895" "30" "-30072" "0" "-30072" "0" "c.-30072C>T" "r.(?)" "p.(=)" "" "0000969223" "00013895" "30" "-26698" "0" "-26698" "0" "c.-26698C>T" "r.(?)" "p.(=)" "" "0000982782" "00013895" "50" "8423" "0" "8423" "0" "c.*7694A>C" "r.(=)" "p.(=)" "" "0001003651" "00013895" "90" "-26246" "0" "-26246" "0" "c.-26246C>T" "r.(?)" "p.(=)" "" "0001042157" "00013895" "50" "8378" "0" "8378" "0" "c.*7649A>C" "r.(=)" "p.(=)" "" "0001056168" "00013895" "50" "-29034" "0" "-29034" "0" "c.-29034C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000165603" "0000369334"