### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MRPL44) # 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}}" "MRPL44" "mitochondrial ribosomal protein L44" "2" "p24.3-p24.1" "unknown" "NG_050679.1" "UD_136089290999" "" "https://www.LOVD.nl/MRPL44" "" "1" "16650" "65080" "611849" "1" "1" "0" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MRPL44_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-08 12:29:52" "00006" "2024-09-25 11:51:01" ## 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}}" "00013879" "MRPL44" "mitochondrial ribosomal protein L44" "001" "NM_022915.3" "" "NP_075066.1" "" "" "" "-69" "1679" "999" "224822121" "224832431" "" "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" "03923" "COXPD16" "combined oxidative phosphorylation deficiency, type 16 (COXPD-16)" "AR" "615395" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MRPL44" "03923" ## 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}}" "00164770" "" "" "" "2" "" "00006" "{PMID:Carroll 2013:23315540}" "2-generation family, affected sisters, unaffected carrier parents" "F" "" "Finland" "" "0" "" "" "" "23315540-Fam" "00164771" "" "" "" "1" "" "00006" "{PMID:Distelmaier 2015:25797485}" "2-generation family, 1 affected, unaffected carrier parents" "F" "no" "Germany" "" "0" "" "" "" "25797485-Fam" "00164772" "" "" "" "1" "" "00006" "{PMID:Distelmaier 2015:25797485}" "2-generation family, 1 affected, unaffected carrier parents" "F" "no" "Germany" "" "0" "" "" "" "25797485-FamPat2" "00292618" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00454705" "" "" "" "1" "" "00095" "{PMID:Legati 2016:26968897}" "" "M" "" "" "" "0" "" "" "" "NGSP35" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00164770" "00198" "00164771" "00198" "00164772" "00198" "00292618" "00198" "00454705" "05534" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03923, 05534 ## Count = 4 "{{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}}" "0000129788" "00198" "00164770" "00006" "Familial, autosomal recessive" "" "see paper; ..., mitochondrial infantile cardiomyopathy" "" "" "" "" "" "" "" "" "COXPD-16" "mitochondrial infantile cardiomyopathy" "" "0000129789" "00198" "00164771" "00006" "Familial, autosomal recessive" "" "see paper; ..., slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "COXPD-16" "" "" "0000129790" "00198" "00164772" "00006" "Familial, autosomal recessive" "" "see paper; ..., slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "COXPD-16" "" "" "0000343333" "05534" "00454705" "00095" "Familial, autosomal recessive" "" "cardiomyopathy" "<1y" "" "" "" "" "" "" "" "" "multiple RC complex defect" "" ## 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}}" "0000165636" "00164770" "1" "00006" "00006" "2018-06-08 12:28:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165637" "00164771" "1" "00006" "00006" "2018-06-08 12:33:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165638" "00164772" "1" "00006" "00006" "2018-06-08 12:38:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000293786" "00292618" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000456318" "00454705" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000165636" "MRPL44" "0000165637" "MRPL44" "0000165638" "MRPL44" ## 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 = 8 "{{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}}" "0000369370" "3" "90" "2" "224824538" "224824538" "subst" "0.000235573" "00006" "MRPL44_000001" "g.224824538T>G" "" "{PMID:Carroll 2013:23315540}" "" "" "" "Germline" "yes" "" "0" "" "" "g.223959821T>G" "" "pathogenic" "" "0000369371" "1" "90" "2" "224824538" "224824538" "subst" "0.000235573" "00006" "MRPL44_000001" "g.224824538T>G" "" "{PMID:Distelmaier 2015:25797485}" "" "" "" "Germline" "" "" "0" "" "" "g.223959821T>G" "" "pathogenic" "" "0000369372" "2" "90" "2" "224824304" "224824304" "subst" "4.06392E-6" "00006" "MRPL44_000002" "g.224824304G>A" "" "{PMID:Distelmaier 2015:25797485}" "" "" "" "Germline" "" "" "0" "" "" "g.223959587G>A" "" "pathogenic" "" "0000369373" "3" "90" "2" "224824538" "224824538" "subst" "0.000235573" "00006" "MRPL44_000001" "g.224824538T>G" "" "{PMID:Distelmaier 2015:25797485}" "" "" "" "Germline" "" "" "0" "" "" "g.223959821T>G" "" "pathogenic" "" "0000650475" "1" "10" "2" "224824484" "224824484" "subst" "0.0114899" "03575" "MRPL44_000005" "g.224824484C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs11546406}" "Germline" "" "rs11546406" "0" "" "" "g.223959767C>T" "" "benign" "" "0000971624" "0" "70" "2" "224824269" "224824276" "delins" "0" "03779" "MRPL44_000006" "g.224824269_224824276delinsTA" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001008564" "1" "90" "2" "224824538" "224824538" "subst" "0.000235573" "00095" "MRPL44_000001" "g.224824538T>G" "" "{PMID:Legati 2016:26968897}" "" "L156R" "" "Germline" "" "" "0" "" "" "g.223959821T>G" "" "pathogenic" "" "0001008589" "2" "90" "2" "224831584" "224831584" "subst" "0" "00095" "MRPL44_000007" "g.224831584A>T" "" "{PMID:Legati 2016:26968897}" "" "K278*" "" "Germline" "" "" "0" "" "" "g.223966867A>T" "" "pathogenic" "" ## 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 MRPL44 ## Count = 8 "{{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}}" "0000369370" "00013879" "90" "467" "0" "467" "0" "c.467T>G" "r.(?)" "p.(Leu156Arg)" "2" "0000369371" "00013879" "90" "467" "0" "467" "0" "c.467T>G" "r.(?)" "p.(Leu156Arg)" "2" "0000369372" "00013879" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Arg78Gln)" "" "0000369373" "00013879" "90" "467" "0" "467" "0" "c.467T>G" "r.(?)" "p.(Leu156Arg)" "2" "0000650475" "00013879" "10" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Thr138Ile)" "" "0000971624" "00013879" "70" "198" "0" "205" "0" "c.198_205delinsTA" "r.(?)" "p.(Trp66_His69delinsCysAsn)" "" "0001008564" "00013879" "90" "467" "0" "467" "0" "c.467T>G" "r.(?)" "p.(Leu156Arg)" "" "0001008589" "00013879" "90" "832" "0" "832" "0" "c.832A>T" "r.(?)" "p.(Lys278Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000165636" "0000369370" "0000165637" "0000369371" "0000165637" "0000369372" "0000165638" "0000369373" "0000293786" "0000650475" "0000456318" "0001008564" "0000456318" "0001008589"