### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MRPL3) # 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}}" "MRPL3" "mitochondrial ribosomal protein L3" "3" "q21-q23" "unknown" "NG_029207.1" "UD_132119074526" "" "http://www.LOVD.nl/MRPL3" "" "1" "10379" "11222" "607118" "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/MRPL3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-06-20 00:00:00" "00006" "2017-07-04 20:59:24" "00000" "2024-04-19 20:27:30" ## 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}}" "00013844" "MRPL3" "mitochondrial ribosomal protein L3" "001" "NM_007208.3" "" "NP_009139.1" "" "" "" "-195" "1569" "1047" "131221860" "131181045" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03682" "COXPD9" "combined oxidative phosphorylation deficiency, type 9 (COXPD-9)" "AR" "614582" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MRPL3" "03682" ## 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}}" "00064765" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y01m" "0" "" "" "Europe" "SIDS015" "00107932" "" "" "" "2" "" "02056" "" "" "" "" "France" "" "0" "" "" "" "" "00164768" "" "" "" "4" "" "00006" "{PMID:Galmiche 2011:21786366}" "2-generation family, 4 affecteds (3F, M), unaffected carrier parents" "F;M" "" "France" "" "0" "" "" "" "21786366-Fam" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00064765" "02087" "00107932" "00198" "00164768" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02087, 03682 ## Count = 3 "{{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}}" "0000050924" "02087" "00064765" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000085678" "00198" "00107932" "02056" "Familial, autosomal recessive" "" "mitochondrial cardiomyopathy, mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000129786" "00198" "00164768" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypertrophic cardiomyopathy, sychomotor retardation, and multiple respiratory chain deficiency" "" "" "" "" "" "" "" "" "" "mitochondrial cardiomyopathy" "" ## 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}}" "0000064906" "00064765" "1" "01602" "01602" "2016-05-11 15:12:37" "01602" "2016-05-19 13:27:54" "SEQ-NG-I" "DNA" "" "" "0000108401" "00107932" "1" "02056" "02056" "2011-06-30 14:43:56" "00004" "2011-06-30 16:01:33" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000165634" "00164768" "1" "00006" "00006" "2018-06-08 12:03:42" "00006" "2018-06-08 12:07:34" "arrayCGH;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000108401" "MRPL3" "0000165634" "MRPL3" ## 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}}" "0000096561" "0" "50" "3" "131186967" "131186967" "subst" "0.000351203" "01602" "MRPL3_000006" "g.131186967A>G" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs143788120" "0" "" "" "g.131468123A>G" "" "VUS" "" "0000174331" "11" "90" "3" "0" "0" "" "0" "02056" "MRPL3_000002" "g.?" "" "" "" "" "0.25 Mb deletion entire gene, from rs9813877 to rs2976150" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174332" "21" "90" "3" "131181664" "131181664" "subst" "8.1634E-6" "02056" "MRPL3_000001" "g.131181664G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.131462820G>C" "" "pathogenic" "" "0000249021" "0" "10" "3" "131186916" "131186916" "del" "0" "02325" "MRPL3_000007" "g.131186916del" "" "" "" "MRPL3(NM_007208.4):c.894+27delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131468072del" "" "benign" "" "0000282579" "0" "10" "3" "131188528" "131188528" "subst" "0.146433" "02325" "MRPL3_000008" "g.131188528T>G" "" "" "" "MRPL3(NM_007208.4):c.816+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131469684T>G" "" "benign" "" "0000349159" "0" "30" "3" "131220428" "131220428" "subst" "0.0017183" "02327" "MRPL3_000009" "g.131220428C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131501584C>T" "" "likely benign" "" "0000369367" "21" "70" "3" "131181664" "131181664" "subst" "8.1634E-6" "00006" "MRPL3_000001" "g.131181664G>C" "" "{PMID:Galmiche 2011:21786366}" "" "" "" "Germline" "yes" "" "0" "" "" "g.131462820G>C" "" "likely pathogenic" "" "0000369368" "11" "90" "3" "131181566" "131221666" "del" "0" "00006" "MRPL3_000010" "g.(130971390_131181566)_(131221666_131374290)del" "" "{PMID:Galmiche 2011:21786366}" "" "" "rs9813877 and rs9822908 outside deletion" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000608327" "0" "70" "3" "131221573" "131221573" "subst" "0" "01943" "MRPL3_000011" "g.131221573C>T" "" "" "" "MRPL3(NM_007208.3):c.92+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131502729C>T" "" "likely pathogenic" "" "0000975579" "0" "30" "3" "131186928" "131186928" "subst" "0.000342114" "01804" "MRPL3_000012" "g.131186928T>C" "" "" "" "MRPL3(NM_007208.4):c.894+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 MRPL3 ## 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}}" "0000096561" "00013844" "50" "862" "0" "862" "0" "c.862T>C" "r.(?)" "p.(Ser288Pro)" "9" "0000174331" "00013844" "90" "-195" "0" "1569" "0" "c.(?_-195)_(*522_?)del" "r.0" "p.0" "1_10" "0000174332" "00013844" "90" "950" "0" "950" "0" "c.950C>G" "r.950c>u" "p.Pro317Arg" "10" "0000249021" "00013844" "10" "894" "27" "894" "27" "c.894+27del" "r.(=)" "p.(=)" "" "0000282579" "00013844" "10" "816" "12" "816" "12" "c.816+12A>C" "r.(=)" "p.(=)" "" "0000349159" "00013844" "30" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Ser75Asn)" "" "0000369367" "00013844" "70" "950" "0" "950" "0" "c.950C>G" "r.950c>g" "p.Pro317Arg" "10" "0000369368" "00013844" "90" "-1" "0" "1048" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_10_" "0000608327" "00013844" "70" "92" "1" "92" "1" "c.92+1G>A" "r.spl?" "p.?" "" "0000975579" "00013844" "30" "894" "7" "894" "7" "c.894+7A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000064906" "0000096561" "0000108401" "0000174331" "0000108401" "0000174332" "0000165634" "0000369367" "0000165634" "0000369368"