### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A10) # 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}}" "SLC25A10" "solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10" "17" "q25.3" "unknown" "NC_000017.10" "UD_136017935819" "" "https://www.LOVD.nl/SLC25A10" "" "1" "10980" "1468" "606794" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SLC25A10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-04 22:28:36" "00000" "2023-04-16 21:50:28" ## 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}}" "00025807" "SLC25A10" "transcript variant 2" "002" "NM_012140.4" "" "NP_036272.2" "" "" "" "-191" "1803" "864" "79679266" "79688046" "00006" "2023-02-04 22:25:53" "" "" ## 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}}" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "07003" "MTDPS19" "mitochondrial DNA depletion syndrome, type 19" "AR" "618972" "" "" "" "00006" "2023-02-04 22:37:28" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC25A10" "07003" ## 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}}" "00431245" "" "" "" "1" "" "00006" "{PMID:Punzi 2018:29211846}, {PMID:Yepez 2022:35379322}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Italy" "" "0" "" "" "" "patient;R74065" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00431245" "00344" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00344, 07003 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000321850" "00344" "00431245" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., severe hypotonia, intractable tonic spasms, focal seizures, quadriparesis; EEG multifocal epileptiform discharges; MRI 1y-high signal intensitywhite matter, 4y-thinning corpus callosum; microcytic anemia; increased lactate, increased lactate/pyruvate ratio" "" "" "" "" "" "" "" "MTDPS19" "epileptic encephalopathy" ## 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}}" "0000432659" "00431245" "1" "00006" "00006" "2023-02-04 22:39:21" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 6 "{{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}}" "0000563710" "0" "30" "17" "79684843" "79684843" "subst" "0.00129198" "01804" "SLC25A10_000001" "g.79684843C>T" "" "" "" "SLC25A10(NM_001270888.1):c.684C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81717813C>T" "" "likely benign" "" "0000563711" "0" "50" "17" "79687432" "79687432" "subst" "0" "01804" "SLC25A10_000002" "g.79687432G>T" "" "" "" "SLC25A10(NM_001270888.1):c.*325G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81720402G>T" "" "VUS" "" "0000563712" "0" "50" "17" "79687455" "79687455" "subst" "0" "01943" "SLC25A10_000003" "g.79687455C>T" "" "" "" "SLC25A10(NM_001270953.1):c.1129C>T (p.R377*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81720425C>T" "" "VUS" "" "0000918210" "21" "90" "17" "79682598" "79682598" "subst" "0" "00006" "SLC25A10_000004" "g.79682598A>T" "" "{PMID:Punzi 2018:29211846}, {PMID:Yepez 2022:35379322}" "" "" "nonsense mediated mRNA decay" "Germline" "" "" "0" "" "" "g.81715568A>T" "" "pathogenic (recessive)" "" "0000918211" "11" "30" "17" "79684843" "79684843" "subst" "0.00129198" "00006" "SLC25A10_000001" "g.79684843C>T" "" "{PMID:Punzi 2018:29211846}, {PMID:Yepez 2022:35379322}" "" "NM_001270888.1:c.684C>T" "" "Germline" "" "rs114621664" "0" "" "" "g.81717813C>T" "SCV000611119" "likely benign" "" "0000918212" "11" "70" "17" "79686969" "79686969" "subst" "0.00115876" "00006" "SLC25A10_000005" "g.79686969G>A" "" "{PMID:Punzi 2018:29211846}, {PMID:Yepez 2022:35379322}" "" "" "" "Germline" "" "rs200706742" "0" "" "" "g.81719939G>A" "SCV000611120" "likely pathogenic (recessive)" "" ## 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 SLC25A10 ## Count = 6 "{{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}}" "0000563710" "00025807" "30" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(Pro219=)" "" "0000563711" "00025807" "50" "1189" "0" "1189" "0" "c.*325G>T" "r.(=)" "p.(=)" "" "0000563712" "00025807" "50" "1212" "0" "1212" "0" "c.*348C>T" "r.(=)" "p.(=)" "" "0000918210" "00025807" "90" "304" "0" "304" "0" "c.304A>T" "r.0" "p.0" "" "0000918211" "00025807" "30" "657" "0" "657" "0" "c.657C>T" "r.657c>u" "p.Pro219=" "" "0000918212" "00025807" "70" "763" "-37" "763" "-37" "c.763-37G>A" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000432659" "0000918210" "0000432659" "0000918211" "0000432659" "0000918212"